loading...| Preferred Name |
季肋成长不全 / Hypochondrogenesis |
| Definitions |
A condition caused by failure of the skeletal system to correctly develop during the antenatal period, due to mutation of the COL2A1 gene. This condition is characterized by a small body, short limbs, underdeveloped lungs, flat and oval-shaped face, hypertelorism, micrognathia, enlarged abdomen, and ossification in the spine and pelvis. This condition may also present with a cleft palate. |
| ID |
http://purl.bmicc.cn/ontology/ICD11CN/LD24.51 |
| definition |
A condition caused by failure of the skeletal system to correctly develop during the antenatal period, due to mutation of the COL2A1 gene. This condition is characterized by a small body, short limbs, underdeveloped lungs, flat and oval-shaped face, hypertelorism, micrognathia, enlarged abdomen, and ossification in the spine and pelvis. This condition may also present with a cleft palate. |
| hasDbXref | |
| label |
季肋成长不全 / Hypochondrogenesis |
| mappingRelation | |
| notation |
LD24.51 |
| prefixIRI |
ICD11CN:LD24.51 |
| prefLabel |
季肋成长不全 / Hypochondrogenesis |
| subClassOf |