723461007: Pierre Robin sequence faciodigital anomaly syndrome (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Finding of limb structure\Disorder of extremity\...
• \Disorder of digit\Congenital anomaly of digit\Pierre Robin sequence faciodigital anomaly syndrome
• \Congenital anomaly of limb\Congenital anomaly of digit\Pierre Robin sequence faciodigital anomaly syndrome
• \Finding of head and neck region\Head finding\...
• \Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Robin sequence\Pierre Robin sequence faciodigital anomaly syndrome
• \Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Robin sequence\Pierre Robin sequence faciodigital anomaly syndrome
• \Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Robin sequence\Pierre Robin sequence faciodigital anomaly syndrome
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Pierre Robin sequence faciodigital anomaly syndrome
• \Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked recessive hereditary disease\Pierre Robin sequence faciodigital anomaly syndrome
• \Disease\Disorder of extremity\Disorder of digit\Congenital anomaly of digit\Pierre Robin sequence faciodigital anomaly syndrome
• \Disease\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of digit\Pierre Robin sequence faciodigital anomaly syndrome
• \Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Robin sequence\Pierre Robin sequence faciodigital anomaly syndrome
• \Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Robin sequence\Pierre Robin sequence faciodigital anomaly syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Robin sequence\Pierre Robin sequence faciodigital anomaly syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Robin sequence\Pierre Robin sequence faciodigital anomaly syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of digit\Pierre Robin sequence faciodigital anomaly syndrome
• \Disease\Developmental disorder\Developmental hereditary disorder\Pierre Robin sequence faciodigital anomaly syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Robin sequence\Pierre Robin sequence faciodigital anomaly syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Robin sequence\Pierre Robin sequence faciodigital anomaly syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of digit\Pierre Robin sequence faciodigital anomaly syndrome

Status: current, Primitive. Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3424707016	Pierre Robin sequence faciodigital anomaly syndrome (disorder)	en	Fully specified name	Active	Case sensitive	SNOMED CT core
3424708014	Pierre Robin sequence faciodigital anomaly syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3424709018	Chitayat Meunier Hodgkinson syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3424710011	Pierre Robin sequence with facial and digital anomalies	en	Synonym	Active	Case sensitive	SNOMED CT core
3424711010	The association of Pierre Robin sequence (retrognathia, cleft palate and glossoptosis), facial dysmorphism (high forehead with frontal bossing) and digital anomalies (tapering fingers, hyper convex nails, clinodactyly of the fifth fingers and short distal phalanges, finger-like thumbs and easily subluxated first metacarpophalangeal joints). Growth and mental development are normal. It has been described in two half brothers born to the same mother. Transmission appears to be X-linked recessive.	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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