720427009: dysostose acrofaciale de Kennedy-Teebi (trouble)

• SNOMED CT Concept\constatation clinique\...
• \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\Acrofacial dysostosis Kennedy Teebi type (disorder)
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\...
• \Finding of head region\Finding of face\...
• \Lesion of face (finding)\Acrofacial dysostosis Kennedy Teebi type (disorder)
• \Facial bone finding\Disorder of facial bone\Congenital anomaly of face bones\Acrofacial dysostosis Kennedy Teebi type (disorder)
• \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\Acrofacial dysostosis Kennedy Teebi type (disorder)
• \Disorder of face (disorder)\Congenital anomaly of face (disorder)\Congenital anomaly of face bones\Acrofacial dysostosis Kennedy Teebi type (disorder)
• \Disorder of face (disorder)\Disorder of facial bone\Congenital anomaly of face bones\Acrofacial dysostosis Kennedy Teebi type (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\Acrofacial dysostosis Kennedy Teebi type (disorder)
• \affection de la tête\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Congenital anomaly of face bones\Acrofacial dysostosis Kennedy Teebi type (disorder)
• \affection de la tête\Disorder of face (disorder)\Disorder of facial bone\Congenital anomaly of face bones\Acrofacial dysostosis Kennedy Teebi type (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\Acrofacial dysostosis Kennedy Teebi type (disorder)
• \affection de la tête\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital anomaly of face bones\Acrofacial dysostosis Kennedy Teebi type (disorder)
• \affection de la tête\Congenital anomaly of head\anomalie congénitale des os du crâne et du visage\Congenital anomaly of face bones\Acrofacial dysostosis Kennedy Teebi type (disorder)
• \Musculoskeletal finding\constatation à propos de l'os\Facial bone finding\Disorder of facial bone\Congenital anomaly of face bones\Acrofacial dysostosis Kennedy Teebi type (disorder)
• \Musculoskeletal finding\constatation à propos de l'os\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\Acrofacial dysostosis Kennedy Teebi type (disorder)
• \Musculoskeletal finding\constatation à propos de l'os\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Dysostosis\Acrofacial dysostosis Kennedy Teebi type (disorder)
• \Musculoskeletal finding\constatation à propos de l'os\Disorder of bone (disorder)\Disorder of facial bone\Congenital anomaly of face bones\Acrofacial dysostosis Kennedy Teebi type (disorder)
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Acrofacial dysostosis Kennedy Teebi type (disorder)
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Skeletal dysplasia\Dysostosis\Acrofacial dysostosis Kennedy Teebi type (disorder)
• \Musculoskeletal finding\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\Acrofacial dysostosis Kennedy Teebi type (disorder)
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Dysostosis\Acrofacial dysostosis Kennedy Teebi type (disorder)
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of facial bone\Congenital anomaly of face bones\Acrofacial dysostosis Kennedy Teebi type (disorder)
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysostosis\Acrofacial dysostosis Kennedy Teebi type (disorder)
• \Musculoskeletal finding\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\Acrofacial dysostosis Kennedy Teebi type (disorder)
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Acrofacial dysostosis Kennedy Teebi type (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Acrofacial dysostosis Kennedy Teebi type (disorder)
• \Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Acrofacial dysostosis Kennedy Teebi type (disorder)
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Acrofacial dysostosis Kennedy Teebi type (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Acrofacial dysostosis Kennedy Teebi type (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Acrofacial dysostosis Kennedy Teebi type (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Skeletal dysplasia\Dysostosis\Acrofacial dysostosis Kennedy Teebi type (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\Acrofacial dysostosis Kennedy Teebi type (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\Dysostosis\Acrofacial dysostosis Kennedy Teebi type (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\Acrofacial dysostosis Kennedy Teebi type (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysostosis\Acrofacial dysostosis Kennedy Teebi type (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\Acrofacial dysostosis Kennedy Teebi type (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Acrofacial dysostosis Kennedy Teebi type (disorder)
• \Disease\affection d'une extrémité\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Acrofacial dysostosis Kennedy Teebi type (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\Acrofacial dysostosis Kennedy Teebi type (disorder)
• \Disease\affection de la tête\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Congenital anomaly of face bones\Acrofacial dysostosis Kennedy Teebi type (disorder)
• \Disease\affection de la tête\Disorder of face (disorder)\Disorder of facial bone\Congenital anomaly of face bones\Acrofacial dysostosis Kennedy Teebi type (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\Acrofacial dysostosis Kennedy Teebi type (disorder)
• \Disease\affection de la tête\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital anomaly of face bones\Acrofacial dysostosis Kennedy Teebi type (disorder)
• \Disease\affection de la tête\Congenital anomaly of head\anomalie congénitale des os du crâne et du visage\Congenital anomaly of face bones\Acrofacial dysostosis Kennedy Teebi type (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\Acrofacial dysostosis Kennedy Teebi type (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\Acrofacial dysostosis Kennedy Teebi type (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\Acrofacial dysostosis Kennedy Teebi type (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital anomaly of face bones\Acrofacial dysostosis Kennedy Teebi type (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\anomalie congénitale des os du crâne et du visage\Congenital anomaly of face bones\Acrofacial dysostosis Kennedy Teebi type (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysostosis\Acrofacial dysostosis Kennedy Teebi type (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\Acrofacial dysostosis Kennedy Teebi type (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Acrofacial dysostosis Kennedy Teebi type (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Acrofacial dysostosis Kennedy Teebi type (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\Acrofacial dysostosis Kennedy Teebi type (disorder)
• \Disease\trouble du développement\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Dysostosis\Acrofacial dysostosis Kennedy Teebi type (disorder)
• \Disease\trouble du développement\Developmental hereditary disorder\Acrofacial dysostosis Kennedy Teebi type (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\Acrofacial dysostosis Kennedy Teebi type (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\Acrofacial dysostosis Kennedy Teebi type (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\Acrofacial dysostosis Kennedy Teebi type (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital anomaly of face bones\Acrofacial dysostosis Kennedy Teebi type (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\Acrofacial dysostosis Kennedy Teebi type (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysostosis\Acrofacial dysostosis Kennedy Teebi type (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\Acrofacial dysostosis Kennedy Teebi type (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Acrofacial dysostosis Kennedy Teebi type (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Acrofacial dysostosis Kennedy Teebi type (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3320722017	Acrofacial dysostosis Kennedy Teebi type (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3320723010	Acrofacial dysostosis Kennedy Teebi type	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3320724016	Kennedy Teebi syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
755351000241119	dysostose acrofaciale de Kennedy-Teebi (trouble)	fr	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
874531000172111	dysostose acrofaciale de Kennedy-Teebi	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
937421000172112	syndrome de Kennedy-Teebi	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
3320725015	Reported as a new type of acrofacial dysostosis due to the presence of manifestations not usually seen in Nager syndrome such as microcephaly, blepharophimosis, microtia, a peculiar beaked nose, cleft lip and palate, symmetrical involvement of the thumbs and great toes and developmental delay.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

This concept is not in any reference sets

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