Holoprosencephaly, ectrodactyly, cleft lip, cleft palate syndrome (disorder) | | Hartsfield syndrome | | Hartsfield Bixler Demyer syndrome Holoprosencephaly, ectrodactyly, cleft lip, cleft palate syndrome
| | A rare disease with characteristics of holoprosencephaly and ectrodactyly. Holoprosencephaly occurs during early fetal development with failure of the brain to divide into the left and right hemisphere. In the most severe forms of holoprosencephaly, the brain does not divide at all. These affected individuals have cyclopia and proboscis located above the eye. Most babies with severe holoprosencephaly die before birth or soon after. Other manifestations include malfunctioning pituitary, seizures, feeding difficulties, developmental delay and problems regulating body temperature and sleep pattern. Some affected individuals have distinctive facial features, including hypertelorism, hypotelorism, cleft lip, cleft palate. Can be caused by mutations in the FGFR1 gene. | | syndroom van holoprosencefalie, ectrodactylie en cheilopalatoschisis | | syndroom van holoprosencefalie, ectrodactylie, gespleten gehemelte en gespleten lip syndroom van Hartsfield
|
| Id | 766032007 | Status | Primitive |
DHD Diagnosis thesaurus reference set |
ICD-10 complex map reference set | Target | Q87.8 | Rule | TRUE | Advice | ALWAYS Q87.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | Correlation | SNOMED CT source code to target map code correlation not specified |
|
|