733034007: syndrome Charlie M (trouble)

SNOMED CT Concept\constatation clinique\...

\Digestive system finding (finding)\Finding of mouth region (finding)\maladie de la cavité buccale\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Oromandibular-limb hypogenesis spectrum\Charlie M syndrome (disorder)
\Digestive system finding (finding)\Finding of mouth region (finding)\Oral cavity finding\Congenital abnormality of oral cavity\Oromandibular-limb hypogenesis spectrum\Charlie M syndrome (disorder)
\Digestive system finding (finding)\maladie de l'appareil digestif\Disorder of digestive tract (disorder)\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 (disorder)
\Digestive system finding (finding)\maladie de l'appareil digestif\Disorder of digestive tract (disorder)\Disorder of upper digestive tract (disorder)\Congenital malformation of upper alimentary tract\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Oromandibular-limb hypogenesis spectrum\Charlie M syndrome (disorder)
\Digestive system finding (finding)\maladie de l'appareil digestif\Disorder of digestive tract (disorder)\Disorder of upper digestive tract (disorder)\maladie de la cavité buccale\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Oromandibular-limb hypogenesis spectrum\Charlie M syndrome (disorder)
\Digestive system finding (finding)\maladie de l'appareil digestif\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 (disorder)

\constatation à propos de la structure d'un membre\affection d'une extrémité\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Oromandibular-limb hypogenesis spectrum\Charlie M syndrome (disorder)

\constatation à propos d'une région de la tête et du cou\Head finding (finding)\...

\Finding of head region\Finding of mouth region (finding)\maladie de la cavité buccale\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Oromandibular-limb hypogenesis spectrum\Charlie M syndrome (disorder)
\Finding of head region\Finding of mouth region (finding)\Oral cavity finding\Congenital abnormality of oral cavity\Oromandibular-limb hypogenesis spectrum\Charlie M syndrome (disorder)
\Finding of head region\Finding of face\Facial bone finding\Disorder of facial bone\Disorder of mandible\Congenital anomaly of mandible\Oromandibular-limb hypogenesis spectrum\Charlie M syndrome (disorder)
\Finding of head region\Finding of face\Facial bone finding\Disorder of facial bone\Congenital anomaly of face bones\Congenital anomaly of mandible\Oromandibular-limb hypogenesis spectrum\Charlie M syndrome (disorder)
\Finding of head region\Finding of face\Disorder of face (disorder)\Congenital anomaly of face (disorder)\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)
\Finding of head region\Finding of face\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Congenital anomaly of face bones\Congenital anomaly of mandible\Oromandibular-limb hypogenesis spectrum\Charlie M syndrome (disorder)
\Finding of head region\Finding of face\Disorder of face (disorder)\Disorder of facial bone\Disorder of mandible\Congenital anomaly of mandible\Oromandibular-limb hypogenesis spectrum\Charlie M syndrome (disorder)
\Finding of head region\Finding of face\Disorder of face (disorder)\Disorder of facial bone\Congenital anomaly of face bones\Congenital anomaly of mandible\Oromandibular-limb hypogenesis spectrum\Charlie M syndrome (disorder)
\Finding of head region\affection de la mâchoire\Disorder of mandible\Congenital anomaly of mandible\Oromandibular-limb hypogenesis spectrum\Charlie M syndrome (disorder)
\Finding of head region\affection de la mâchoire\Congenital anomaly of jaw\Congenital anomaly of mandible\Oromandibular-limb hypogenesis spectrum\Charlie M syndrome (disorder)

\Skull finding\Disorder of skull (disorder)\anomalie congénitale du crâne (trouble)\Hypertelorism\Charlie M syndrome (disorder)

\affection de la tête\Disorder of skull (disorder)\anomalie congénitale du crâne (trouble)\Hypertelorism\Charlie M syndrome (disorder)
\affection de la tête\maladie de la cavité buccale\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Oromandibular-limb hypogenesis spectrum\Charlie M syndrome (disorder)
\affection de la tête\Disorder of face (disorder)\Congenital anomaly of face (disorder)\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)
\affection de la tête\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Congenital anomaly of face bones\Congenital anomaly of mandible\Oromandibular-limb hypogenesis spectrum\Charlie M syndrome (disorder)
\affection de la tête\Disorder of face (disorder)\Disorder of facial bone\Disorder of mandible\Congenital anomaly of mandible\Oromandibular-limb hypogenesis spectrum\Charlie M syndrome (disorder)
\affection de la tête\Disorder of face (disorder)\Disorder of facial bone\Congenital anomaly of face bones\Congenital anomaly of mandible\Oromandibular-limb hypogenesis spectrum\Charlie M syndrome (disorder)
\affection de la tête\Congenital anomaly of head\Congenital anomaly of face (disorder)\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)
\affection de la tête\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital anomaly of face bones\Congenital anomaly of mandible\Oromandibular-limb hypogenesis spectrum\Charlie M syndrome (disorder)
\affection de la tête\Congenital anomaly of head\anomalie congénitale des os du crâne et du visage\anomalie congénitale du crâne (trouble)\Hypertelorism\Charlie M syndrome (disorder)
\affection de la tête\Congenital anomaly of head\anomalie congénitale des os du crâne et du visage\Congenital anomaly of face bones\Congenital anomaly of mandible\Oromandibular-limb hypogenesis spectrum\Charlie M syndrome (disorder)
\affection de la tête\Congenital anomaly of head\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Oromandibular-limb hypogenesis spectrum\Charlie M syndrome (disorder)
\affection de la tête\Congenital anomaly of head\Congenital anomaly of jaw\Congenital anomaly of mandible\Oromandibular-limb hypogenesis spectrum\Charlie M syndrome (disorder)
\affection de la tête\affection de la mâchoire\Disorder of mandible\Congenital anomaly of mandible\Oromandibular-limb hypogenesis spectrum\Charlie M syndrome (disorder)
\affection de la tête\affection de la mâchoire\Congenital anomaly of jaw\Congenital anomaly of mandible\Oromandibular-limb hypogenesis spectrum\Charlie M syndrome (disorder)

\Disease\affection d'un système corporel\maladie de l'appareil digestif\Disorder of digestive tract (disorder)\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 (disorder)
\Disease\affection d'un système corporel\maladie de l'appareil digestif\Disorder of digestive tract (disorder)\Disorder of upper digestive tract (disorder)\Congenital malformation of upper alimentary tract\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Oromandibular-limb hypogenesis spectrum\Charlie M syndrome (disorder)
\Disease\affection d'un système corporel\maladie de l'appareil digestif\Disorder of digestive tract (disorder)\Disorder of upper digestive tract (disorder)\maladie de la cavité buccale\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Oromandibular-limb hypogenesis spectrum\Charlie M syndrome (disorder)
\Disease\affection d'un système corporel\maladie de l'appareil digestif\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 (disorder)
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\anomalie congénitale des os du crâne et du visage\anomalie congénitale du crâne (trouble)\Hypertelorism\Charlie M syndrome (disorder)
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\anomalie congénitale des os du crâne et du visage\Congenital anomaly of face bones\Congenital anomaly of mandible\Oromandibular-limb hypogenesis spectrum\Charlie M syndrome (disorder)
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of facial bone\Disorder of mandible\Congenital anomaly of mandible\Oromandibular-limb hypogenesis spectrum\Charlie M syndrome (disorder)
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of facial bone\Congenital anomaly of face bones\Congenital anomaly of mandible\Oromandibular-limb hypogenesis spectrum\Charlie M syndrome (disorder)
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of skull (disorder)\anomalie congénitale du crâne (trouble)\Hypertelorism\Charlie M syndrome (disorder)
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\anomalie congénitale des os du crâne et du visage\anomalie congénitale du crâne (trouble)\Hypertelorism\Charlie M syndrome (disorder)
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\anomalie congénitale des os du crâne et du visage\Congenital anomaly of face bones\Congenital anomaly of mandible\Oromandibular-limb hypogenesis spectrum\Charlie M syndrome (disorder)
\Disease\affection d'une extrémité\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Oromandibular-limb hypogenesis spectrum\Charlie M syndrome (disorder)
\Disease\affection de la tête\Disorder of skull (disorder)\anomalie congénitale du crâne (trouble)\Hypertelorism\Charlie M syndrome (disorder)
\Disease\affection de la tête\maladie de la cavité buccale\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Oromandibular-limb hypogenesis spectrum\Charlie M syndrome (disorder)
\Disease\affection de la tête\Disorder of face (disorder)\Congenital anomaly of face (disorder)\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)
\Disease\affection de la tête\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Congenital anomaly of face bones\Congenital anomaly of mandible\Oromandibular-limb hypogenesis spectrum\Charlie M syndrome (disorder)
\Disease\affection de la tête\Disorder of face (disorder)\Disorder of facial bone\Disorder of mandible\Congenital anomaly of mandible\Oromandibular-limb hypogenesis spectrum\Charlie M syndrome (disorder)
\Disease\affection de la tête\Disorder of face (disorder)\Disorder of facial bone\Congenital anomaly of face bones\Congenital anomaly of mandible\Oromandibular-limb hypogenesis spectrum\Charlie M syndrome (disorder)
\Disease\affection de la tête\Congenital anomaly of head\Congenital anomaly of face (disorder)\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)
\Disease\affection de la tête\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital anomaly of face bones\Congenital anomaly of mandible\Oromandibular-limb hypogenesis spectrum\Charlie M syndrome (disorder)
\Disease\affection de la tête\Congenital anomaly of head\anomalie congénitale des os du crâne et du visage\anomalie congénitale du crâne (trouble)\Hypertelorism\Charlie M syndrome (disorder)
\Disease\affection de la tête\Congenital anomaly of head\anomalie congénitale des os du crâne et du visage\Congenital anomaly of face bones\Congenital anomaly of mandible\Oromandibular-limb hypogenesis spectrum\Charlie M syndrome (disorder)
\Disease\affection de la tête\Congenital anomaly of head\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Oromandibular-limb hypogenesis spectrum\Charlie M syndrome (disorder)
\Disease\affection de la tête\Congenital anomaly of head\Congenital anomaly of jaw\Congenital anomaly of mandible\Oromandibular-limb hypogenesis spectrum\Charlie M syndrome (disorder)
\Disease\affection de la tête\affection de la mâchoire\Disorder of mandible\Congenital anomaly of mandible\Oromandibular-limb hypogenesis spectrum\Charlie M syndrome (disorder)
\Disease\affection de la tête\affection de la mâchoire\Congenital anomaly of jaw\Congenital anomaly of mandible\Oromandibular-limb hypogenesis spectrum\Charlie M syndrome (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\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)
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with limb defect as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Oromandibular-limb hypogenesis spectrum\Charlie M syndrome (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\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)
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital anomaly of face bones\Congenital anomaly of mandible\Oromandibular-limb hypogenesis spectrum\Charlie M syndrome (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\anomalie congénitale des os du crâne et du visage\anomalie congénitale du crâne (trouble)\Hypertelorism\Charlie M syndrome (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\anomalie congénitale des os du crâne et du visage\Congenital anomaly of face bones\Congenital anomaly of mandible\Oromandibular-limb hypogenesis spectrum\Charlie M syndrome (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Oromandibular-limb hypogenesis spectrum\Charlie M syndrome (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of jaw\Congenital anomaly of mandible\Oromandibular-limb hypogenesis spectrum\Charlie M syndrome (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\anomalie congénitale des os du crâne et du visage\anomalie congénitale du crâne (trouble)\Hypertelorism\Charlie M syndrome (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\anomalie congénitale des os du crâne et du visage\Congenital anomaly of face bones\Congenital anomaly of mandible\Oromandibular-limb hypogenesis spectrum\Charlie M syndrome (disorder)
\Disease\Congenital disease\Congenital malformation\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 (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Oromandibular-limb hypogenesis spectrum\Charlie M syndrome (disorder)
\Disease\trouble du développement\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\anomalie congénitale des os du crâne et du visage\anomalie congénitale du crâne (trouble)\Hypertelorism\Charlie M syndrome (disorder)
\Disease\trouble du développement\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\anomalie congénitale des os du crâne et du visage\Congenital anomaly of face bones\Congenital anomaly of mandible\Oromandibular-limb hypogenesis spectrum\Charlie M syndrome (disorder)
\Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\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)
\Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with limb defect as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Oromandibular-limb hypogenesis spectrum\Charlie M syndrome (disorder)
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\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)
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital anomaly of face bones\Congenital anomaly of mandible\Oromandibular-limb hypogenesis spectrum\Charlie M syndrome (disorder)
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\anomalie congénitale des os du crâne et du visage\anomalie congénitale du crâne (trouble)\Hypertelorism\Charlie M syndrome (disorder)
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\anomalie congénitale des os du crâne et du visage\Congenital anomaly of face bones\Congenital anomaly of mandible\Oromandibular-limb hypogenesis spectrum\Charlie M syndrome (disorder)
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Oromandibular-limb hypogenesis spectrum\Charlie M syndrome (disorder)
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\Congenital anomaly of jaw\Congenital anomaly of mandible\Oromandibular-limb hypogenesis spectrum\Charlie M syndrome (disorder)
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\anomalie congénitale des os du crâne et du visage\anomalie congénitale du crâne (trouble)\Hypertelorism\Charlie M syndrome (disorder)
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\anomalie congénitale des os du crâne et du visage\Congenital anomaly of face bones\Congenital anomaly of mandible\Oromandibular-limb hypogenesis spectrum\Charlie M syndrome (disorder)
\Disease\trouble du développement\Congenital malformation\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 (disorder)
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Oromandibular-limb hypogenesis spectrum\Charlie M syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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 Entire term case sensitive (core metadata concept) SNOMED CT core

3498615010 Charlie M syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

762801000241114 syndrome Charlie M (trouble) fr Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

991661000172117 syndrome Charlie M fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

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 Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Charlie M syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Charlie M syndrome (disorder)	morphologie associée (attribut)	structure anormale sur le plan morphologique	true	Inferred relationship	Some	1
Charlie M syndrome (disorder)	morphologie associée (attribut)	structure anormale sur le plan morphologique	true	Inferred relationship	Some	2
Charlie M syndrome (disorder)	morphologie associée (attribut)	structure anormale sur le plan morphologique	true	Inferred relationship	Some	3
Charlie M syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	4
Charlie M syndrome (disorder)	survenue (attribut)	congénital	true	Inferred relationship	Some	1
Charlie M syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	3
Charlie M syndrome (disorder)	survenue (attribut)	congénital	true	Inferred relationship	Some	2
Charlie M syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Charlie M syndrome (disorder)	survenue (attribut)	congénital	true	Inferred relationship	Some	3
Charlie M syndrome (disorder)	localisation d'une constatation (attribut)	structure d'un membre	true	Inferred relationship	Some	1
Charlie M syndrome (disorder)	morphologie associée (attribut)	structure anormale sur le plan morphologique	true	Inferred relationship	Some	4
Charlie M syndrome (disorder)	localisation d'une constatation (attribut)	os de la mandibule	true	Inferred relationship	Some	2
Charlie M syndrome (disorder)	localisation d'une constatation (attribut)	structure de l'os sphénoïde (structure corporelle)	true	Inferred relationship	Some	3
Charlie M syndrome (disorder)	localisation d'une constatation (attribut)	face	false	Inferred relationship	Some	5
Charlie M syndrome (disorder)	morphologie associée (attribut)	structure anormale sur le plan morphologique	false	Inferred relationship	Some	5
Charlie M syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	false	Inferred relationship	Some	5
Charlie M syndrome (disorder)	est un(e) (attribut)	Hypertelorism	true	Inferred relationship	Some
Charlie M syndrome (disorder)	est un(e) (attribut)	Oromandibular-limb hypogenesis spectrum	true	Inferred relationship	Some
Charlie M syndrome (disorder)	morphologie associée (attribut)	Developmental abnormality	false	Inferred relationship	Some	4
Charlie M syndrome (disorder)	survenue (attribut)	congénital	true	Inferred relationship	Some	4
Charlie M syndrome (disorder)	localisation d'une constatation (attribut)	Structure of internal part of mouth	true	Inferred relationship	Some	4
Charlie M syndrome (disorder)	morphologie associée (attribut)	Developmental abnormality	false	Inferred relationship	Some	5
Charlie M syndrome (disorder)	survenue (attribut)	congénital	false	Inferred relationship	Some	5
Charlie M syndrome (disorder)	morphologie associée (attribut)	Developmental abnormality	false	Inferred relationship	Some	6
Charlie M syndrome (disorder)	survenue (attribut)	congénital	false	Inferred relationship	Some	6
Charlie M syndrome (disorder)	morphologie associée (attribut)	Developmental abnormality	false	Inferred relationship	Some	7
Charlie M syndrome (disorder)	survenue (attribut)	congénital	false	Inferred relationship	Some	7
Charlie M syndrome (disorder)	localisation d'une constatation (attribut)	Structure of internal part of mouth	false	Inferred relationship	Some	5
Charlie M syndrome (disorder)	localisation d'une constatation (attribut)	structure de l'os sphénoïde (structure corporelle)	false	Inferred relationship	Some	4
Charlie M syndrome (disorder)	localisation d'une constatation (attribut)	structure d'un membre	false	Inferred relationship	Some	7
Charlie M syndrome (disorder)	localisation d'une constatation (attribut)	os de la mandibule	false	Inferred relationship	Some	6

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 (core metadata concept)	SNOMED CT core
3498615010	Charlie M syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
762801000241114	syndrome Charlie M (trouble)	fr	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
991661000172117	syndrome Charlie M	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
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	Entire term case sensitive (core metadata concept)	SNOMED CT core