loading...| Preferred Name |
Ichthyosis, X-Linked |
| Synonyms |
Ichthyosis, Sex-Linked |
| Definitions |
Chronic form of ichthyosis that is inherited as a sex-linked recessive trait carried on the X-chromosome and transmitted to the male offspring. It is characterized by severe scaling, especially on the extremities, and is associated with steroid sulfatase deficiency. |
| ID |
http://purl.bioontology.org/ontology/MESH/D016114 |
| altLabel |
Ichthyosis, Sex-Linked Sulfatase Deficiencies, Steroid Deficiencies, Steroid Sulfatase Ichthyoses, Sex-Linked Deficiency, Steroid Sulfatase Steroid Sulfatase Deficiencies Placental Steroid Sulfatase Deficiency Steroid Sulfatase Deficiency Steroid Sulfatase Deficiency Disease Ichthyosis, Sex Linked Ichthyoses, X-Linked Sulfatase Deficiency, Steroid Ichthyosis, X Linked |
| AN |
do not use /congen & 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 |
C0079588 C2720163 C2717836 |
| DC |
1 |
| definition |
Chronic form of ichthyosis that is inherited as a sex-linked recessive trait carried on the X-chromosome and transmitted to the male offspring. It is characterized by severe scaling, especially on the extremities, and is associated with steroid sulfatase deficiency. |
| DX |
19910101 |
| FX |
D043266 |
| HN |
91 |
| 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 |
| Inverse of RO | |
| Machine permutation |
91 |
| Mapped from | |
| MDA |
19900212 |
| MMR |
20150618 |
| MN |
C16.320.565.925.400 C16.320.322.241 C18.452.648.925.400 C16.614.492.420 C17.800.428.333.420 C17.800.804.512.420 C17.800.827.408 C16.320.850.408 C16.131.831.512.420 |
| notation |
D016114 |
| prefLabel |
Ichthyosis, X-Linked |
| TERMUI |
T047876 T752453 T753022 T753021 T047877 |
| TH |
NLM (1991) NLM (2010) ORD (2010) OMIM (2013) |
| tui |
T047 |
| subClassOf |
http://purl.bioontology.org/ontology/MESH/D040181 http://purl.bioontology.org/ontology/MESH/D007057 |