733034007: Charlie M syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Digestive system finding\Finding of mouth region\Disorder 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 malformation of upper alimentary 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 malformation of upper alimentary 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\Disorder 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 malformation of upper alimentary 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\Disorder 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, Not sufficiently defined by necessary conditions definition status. Date: 31-Jul 2017. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

3498614014 Charlie M syndrome (disorder) en Fully specified name Active Entire term case sensitive SNOMED CT core module

3498615010 Charlie M syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

Expanded Value Set

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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3498614014	Charlie M syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive	SNOMED CT core module
3498615010	Charlie M syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module