733034007: Charlie M syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Digestive system finding\Finding of mouth region\Disease of mouth\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Oromandibular-limb hypogenesis spectrum\Charlie M syndrome
\Digestive system finding\Finding of mouth region\Oral cavity finding\Congenital abnormality of oral cavity\Oromandibular-limb hypogenesis spectrum\Charlie M syndrome
\Digestive system finding\Disorder of digestive system\Disorder of digestive tract\Congenital anomaly of digestive tract\Congenital anomaly of upper digestive tract\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Oromandibular-limb hypogenesis spectrum\Charlie M syndrome
\Digestive system finding\Disorder of digestive system\Disorder of digestive tract\Disorder of upper digestive tract\Congenital anomaly of upper digestive tract\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Oromandibular-limb hypogenesis spectrum\Charlie M syndrome
\Digestive system finding\Disorder of digestive system\Disorder of digestive tract\Disorder of upper digestive tract\Disease of mouth\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Oromandibular-limb hypogenesis spectrum\Charlie M syndrome
\Digestive system finding\Disorder of digestive system\Congenital anomaly of digestive system\Congenital anomaly of digestive tract\Congenital anomaly of upper digestive tract\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Oromandibular-limb hypogenesis spectrum\Charlie M syndrome

\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Oromandibular-limb hypogenesis spectrum\Charlie M syndrome

\Finding of head and neck region\Head finding\...

\Skull finding\Disorder of skull\Congenital anomaly of skull\Hypertelorism\Charlie M syndrome

\Disorder of head\Disorder of skull\Congenital anomaly of skull\Hypertelorism\Charlie M syndrome
\Disorder of head\Disease of mouth\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Oromandibular-limb hypogenesis spectrum\Charlie M syndrome
\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Oromandibular-limb hypogenesis spectrum\Charlie M syndrome
\Disorder of head\Disorder of face\Congenital anomaly of face\Congenital anomaly of face bones\Congenital anomaly of mandible\Oromandibular-limb hypogenesis spectrum\Charlie M syndrome
\Disorder of head\Disorder of face\Disorder of facial bone\Disorder of mandible\Congenital anomaly of mandible\Oromandibular-limb hypogenesis spectrum\Charlie M syndrome
\Disorder of head\Disorder of face\Disorder of facial bone\Congenital anomaly of face bones\Congenital anomaly of mandible\Oromandibular-limb hypogenesis spectrum\Charlie M syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Oromandibular-limb hypogenesis spectrum\Charlie M syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Congenital anomaly of face bones\Congenital anomaly of mandible\Oromandibular-limb hypogenesis spectrum\Charlie M syndrome
\Disorder of head\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Hypertelorism\Charlie M syndrome
\Disorder of head\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Congenital anomaly of mandible\Oromandibular-limb hypogenesis spectrum\Charlie M syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Oromandibular-limb hypogenesis spectrum\Charlie M syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of jaw\Congenital anomaly of mandible\Oromandibular-limb hypogenesis spectrum\Charlie M syndrome
\Disorder of head\Disorder of jaw\Disorder of mandible\Congenital anomaly of mandible\Oromandibular-limb hypogenesis spectrum\Charlie M syndrome
\Disorder of head\Disorder of jaw\Congenital anomaly of jaw\Congenital anomaly of mandible\Oromandibular-limb hypogenesis spectrum\Charlie M syndrome

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

Descriptions:

Id Description Lang Type Status Case? Module

3498614014 Charlie M syndrome (disorder) en Fully specified name Active Case sensitive SNOMED CT core

3498615010 Charlie M syndrome en Synonym Active Case sensitive SNOMED CT core

5072051019 A rare bone developmental disorder belonging to a group of oromandibular limb hypogenesis syndromes. The major anomalies occurring commonly in this group are hypoplasia of the mandible, syndactyly and ectrodactyly, small mouth, cleft palate, hypodontia and facial paralysis. Patients with Charlie M syndrome also present with hypertelorism, absent or conically crowned incisors and variable degrees of hypodactyly of the hands and feet. There have been no further descriptions in the literature since 1976. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Charlie M syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Charlie M syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	1
Charlie M syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	2
Charlie M syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	3
Charlie M syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	4
Charlie M syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Charlie M syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	3
Charlie M syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Charlie M syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Charlie M syndrome	Occurrence	Congenital	true	Inferred relationship	Some	3
Charlie M syndrome	Finding site	Limb structure	true	Inferred relationship	Some	1
Charlie M syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	4
Charlie M syndrome	Finding site	Bone structure of mandible	true	Inferred relationship	Some	2
Charlie M syndrome	Finding site	Sphenoid bone structure	true	Inferred relationship	Some	3
Charlie M syndrome	Finding site	Face structure	false	Inferred relationship	Some	5
Charlie M syndrome	Associated morphology	Morphologically abnormal structure	false	Inferred relationship	Some	5
Charlie M syndrome	Pathological process	Pathological developmental process	false	Inferred relationship	Some	5
Charlie M syndrome	Is a	Hypertelorism	true	Inferred relationship	Some
Charlie M syndrome	Is a	Oromandibular-limb hypogenesis spectrum	true	Inferred relationship	Some
Charlie M syndrome	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	4
Charlie M syndrome	Occurrence	Congenital	true	Inferred relationship	Some	4
Charlie M syndrome	Finding site	Structure of internal part of mouth	true	Inferred relationship	Some	4
Charlie M syndrome	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	5
Charlie M syndrome	Occurrence	Congenital	false	Inferred relationship	Some	5
Charlie M syndrome	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	6
Charlie M syndrome	Occurrence	Congenital	false	Inferred relationship	Some	6
Charlie M syndrome	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	7
Charlie M syndrome	Occurrence	Congenital	false	Inferred relationship	Some	7
Charlie M syndrome	Finding site	Structure of internal part of mouth	false	Inferred relationship	Some	5
Charlie M syndrome	Finding site	Sphenoid bone structure	false	Inferred relationship	Some	4
Charlie M syndrome	Finding site	Limb structure	false	Inferred relationship	Some	7
Charlie M syndrome	Finding site	Bone structure of mandible	false	Inferred relationship	Some	6

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3498614014	Charlie M syndrome (disorder)	en	Fully specified name	Active	Case sensitive	SNOMED CT core
3498615010	Charlie M syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
5072051019	A rare bone developmental disorder belonging to a group of oromandibular limb hypogenesis syndromes. The major anomalies occurring commonly in this group are hypoplasia of the mandible, syndactyly and ectrodactyly, small mouth, cleft palate, hypodontia and facial paralysis. Patients with Charlie M syndrome also present with hypertelorism, absent or conically crowned incisors and variable degrees of hypodactyly of the hands and feet. There have been no further descriptions in the literature since 1976.	en	Definition	Active	Case sensitive	SNOMED CT core