loading...| Preferred Name |
Ichthyosis, Lamellar |
| Synonyms |
Lamellar Ichthyoses |
| Definitions |
A chronic, congenital ichthyosis inherited as an autosomal recessive trait. Infants are usually born encased in a collodion membrane which sheds within a few weeks. Scaling is generalized and marked with grayish-brown quadrilateral scales, adherent at their centers and free at the edges. In some cases, scales are so thick that they resemble armored plate. |
| ID |
http://purl.bioontology.org/ontology/MESH/D017490 |
| altLabel |
Lamellar Ichthyoses Ichthyosis Congenita II Baby Syndrome, Harlequin Nonbullous Congenital Lamellar Ichthyosis Ichthyosis Congenita I Syndromes, Harlequin Baby Collodion Baby Syndrome Collodion Fetus Baby Syndromes, Harlequin Ichthyosiform Erythroderma, Nonbullous Congenital Harlequin Fetus Erythroderma Ichthyosiformes, Nonbullous Harlequin Baby Syndromes Syndrome, Harlequin Baby Lamellar Ichthyosis Fetus, Harlequin Ichthyose, Lamellar Lamellar Exfoliation of Newborn Baby Syndromes, Collodion Newborn Desquamations Fetus, Collodion Congenital Nonbullous Ichthyosiform Erythroderma Erythroderma Ichthyosiforme, Nonbullous Ichthyosis, Lamellar, 1 Syndromes, Collodion Baby Harlequin Baby Syndrome Nonbullous Erythroderma Ichthyosiformes Harlequin Ichthyoses Nonbullous Erythroderma Ichthyosiforme Newborn Lamellar Exfoliation Congenita IIs, Ichthyosis Ichthyosis Congenita IIs Ichthyosis, Harlequin Newborn Desquamation Ichthyosiforme, Nonbullous Erythroderma Congenita II, Ichthyosis Lamellar Ichthyose Ichthyoses, Harlequin Nonbullous Congenital Ichthyosiform Erythroderma Baby Syndrome, Collodion Syndrome, Collodion Baby Harlequin Ichthyosis Ichthyosis Congenita Congenital Ichthyosiform Erythroderma, Nonbullous Ichthyoses, Lamellar Newborn Lamellar Exfoliations Lamellar Ichthyosis, Type 1 Desquamation of Newborn Collodion Baby Syndromes Ichthyosiformes, Nonbullous Erythroderma |
| AN |
do not coord with INFANT, NEWBORN, DISEASES |
| AQL |
BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI |
| cui |
C3536797 C0079154 C3543867 C0239849 C0020758 C4551630 |
| DC |
1 |
| definition |
A chronic, congenital ichthyosis inherited as an autosomal recessive trait. Infants are usually born encased in a collodion membrane which sheds within a few weeks. Scaling is generalized and marked with grayish-brown quadrilateral scales, adherent at their centers and free at the edges. In some cases, scales are so thick that they resemble armored plate. |
| DX |
19930101 |
| HN |
1993; use ICHTHYOSIFORM ERYTHRODERMA, CONGENITAL 1991-1992; ERYTHRODERMA ICHTHYOSIFORME, NONBULLOUS use ICHTHYOSIFORM ERYTHRODERMA, CONGENITAL 1991-1992, use ICHTHYOSIS 1979-1990 |
| Inverse of AQ |
http://purl.bioontology.org/ontology/MESH/Q000401 http://purl.bioontology.org/ontology/MESH/Q000150 http://purl.bioontology.org/ontology/MESH/Q000188 http://purl.bioontology.org/ontology/MESH/Q000517 http://purl.bioontology.org/ontology/MESH/Q000201 http://purl.bioontology.org/ontology/MESH/Q000145 http://purl.bioontology.org/ontology/MESH/Q000503 http://purl.bioontology.org/ontology/MESH/Q000453 http://purl.bioontology.org/ontology/MESH/Q000208 http://purl.bioontology.org/ontology/MESH/Q000134 http://purl.bioontology.org/ontology/MESH/Q000821 http://purl.bioontology.org/ontology/MESH/Q000382 http://purl.bioontology.org/ontology/MESH/Q000601 http://purl.bioontology.org/ontology/MESH/Q000235 http://purl.bioontology.org/ontology/MESH/Q000523 http://purl.bioontology.org/ontology/MESH/Q000276 http://purl.bioontology.org/ontology/MESH/Q000191 http://purl.bioontology.org/ontology/MESH/Q000652 http://purl.bioontology.org/ontology/MESH/Q000662 http://purl.bioontology.org/ontology/MESH/Q000628 http://purl.bioontology.org/ontology/MESH/Q000196 http://purl.bioontology.org/ontology/MESH/Q000534 http://purl.bioontology.org/ontology/MESH/Q000266 http://purl.bioontology.org/ontology/MESH/Q000532 http://purl.bioontology.org/ontology/MESH/Q000139 http://purl.bioontology.org/ontology/MESH/Q000378 http://purl.bioontology.org/ontology/MESH/Q000175 http://purl.bioontology.org/ontology/MESH/Q000000981 http://purl.bioontology.org/ontology/MESH/Q000097 http://purl.bioontology.org/ontology/MESH/Q000473 http://purl.bioontology.org/ontology/MESH/Q000451 http://purl.bioontology.org/ontology/MESH/Q000209 |
| Machine permutation |
1993; see ICHTHYOSIFORM ERYTHRODERMA, CONGENITAL 1991-1992; ERYTHRODERMA ICHTHYOSIFORME, NONBULLOUS see ICHTHYOSIFORM ERYTHRODERMA, CONGENITAL 1991-1992, see ICHTHYOSIS 1979-1990 |
| Mapped from |
http://purl.bioontology.org/ontology/MESH/C537263 http://purl.bioontology.org/ontology/MESH/C538603 http://purl.bioontology.org/ontology/MESH/C537363 http://purl.bioontology.org/ontology/MESH/C538424 http://purl.bioontology.org/ontology/MESH/C564699 http://purl.bioontology.org/ontology/MESH/C537265 |
| MDA |
19920520 |
| MMR |
20190705 |
| MN |
C17.800.428.333.250.410 C16.614.492.400.410 C17.800.804.512.400.410 C16.320.850.400.410 C17.800.827.400.410 C16.131.831.512.400.410 |
| notation |
D017490 |
| prefLabel |
Ichthyosis, Lamellar |
| TERMUI |
T052485 T800585 T834202 T841864 T845015 T800586 T052482 T834208 T834211 T841563 T052483 T052481 T751782 T052487 T753572 T834185 T841865 T800588 T834210 T052486 T834209 T052484 |
| TH |
NLM (1993) NLM (2010) NLM (2014) ORD (2010) OMIM (2013) NLM (1999) GHR (2014) |
| tui |
T019 T047 |
| subClassOf |