763866005: Postaxial polydactyly, anterior pituitary anomalies, facial dysmorphism syndrome (disorder)

• SNOMED CT Concept\Clinical finding\Disease\...
• \Genetic disease\Hereditary disease\...
• \Developmental hereditary disorder\Postaxial polydactyly, anterior pituitary anomalies, facial dysmorphism syndrome
• \Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Postaxial polydactyly, anterior pituitary anomalies, facial dysmorphism syndrome
• \Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Postaxial polydactyly, anterior pituitary anomalies, facial dysmorphism syndrome
• \Developmental disorder\Developmental hereditary disorder\Postaxial polydactyly, anterior pituitary anomalies, facial dysmorphism syndrome
• \Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Postaxial polydactyly, anterior pituitary anomalies, facial dysmorphism syndrome

Status: current, Primitive. Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3644739011	Postaxial polydactyly, anterior pituitary anomalies, facial dysmorphism syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3644755016	Postaxial polydactyly, anterior pituitary anomalies, facial dysmorphism syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3644756015	A rare genetic developmental defect during embryogenesis with primary characteristics of congenital hypopituitarism and/or postaxial polydactyly. It can be associated with short stature, delayed bone age, hypogonadotropic hypogonadism, and/or midline facial defects (e.g. hypotelorism, mild midface hypoplasia, flat nasal bridge, and cleft lip and/or palate). Hypoplastic anterior pituitary and ectopic posterior pituitary lobe are frequent findings on MRI examination.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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