720429007: dysostose acrofaciale type Palagonia (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 Palagonia 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 Palagonia type (disorder)
• \Facial bone finding\Disorder of facial bone\Congenital anomaly of face bones\Acrofacial dysostosis Palagonia 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 Palagonia type (disorder)
• \Disorder of face (disorder)\Congenital anomaly of face (disorder)\Congenital anomaly of face bones\Acrofacial dysostosis Palagonia type (disorder)
• \Disorder of face (disorder)\Disorder of facial bone\Congenital anomaly of face bones\Acrofacial dysostosis Palagonia 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 Palagonia type (disorder)
• \affection de la tête\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Congenital anomaly of face bones\Acrofacial dysostosis Palagonia type (disorder)
• \affection de la tête\Disorder of face (disorder)\Disorder of facial bone\Congenital anomaly of face bones\Acrofacial dysostosis Palagonia 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 Palagonia type (disorder)
• \affection de la tête\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital anomaly of face bones\Acrofacial dysostosis Palagonia 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 Palagonia type (disorder)
• \Musculoskeletal finding\constatation à propos de l'os\Facial bone finding\Disorder of facial bone\Congenital anomaly of face bones\Acrofacial dysostosis Palagonia 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 Palagonia 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 Palagonia 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 Palagonia type (disorder)
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Acrofacial dysostosis Palagonia type (disorder)
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Skeletal dysplasia\Dysostosis\Acrofacial dysostosis Palagonia 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 Palagonia 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 Palagonia 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 Palagonia type (disorder)
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysostosis\Acrofacial dysostosis Palagonia 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 Palagonia type (disorder)
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Acrofacial dysostosis Palagonia type (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Acrofacial dysostosis Palagonia type (disorder)
• \Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Acrofacial dysostosis Palagonia type (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Acrofacial dysostosis Palagonia type (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Acrofacial dysostosis Palagonia type (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Skeletal dysplasia\Dysostosis\Acrofacial dysostosis Palagonia 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 Palagonia 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 Palagonia 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 Palagonia type (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysostosis\Acrofacial dysostosis Palagonia 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 Palagonia 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 Palagonia type (disorder)
• \Disease\affection d'une extrémité\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Acrofacial dysostosis Palagonia 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 Palagonia type (disorder)
• \Disease\affection de la tête\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Congenital anomaly of face bones\Acrofacial dysostosis Palagonia type (disorder)
• \Disease\affection de la tête\Disorder of face (disorder)\Disorder of facial bone\Congenital anomaly of face bones\Acrofacial dysostosis Palagonia 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 Palagonia type (disorder)
• \Disease\affection de la tête\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital anomaly of face bones\Acrofacial dysostosis Palagonia 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 Palagonia 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 Palagonia 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 Palagonia 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 Palagonia type (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital anomaly of face bones\Acrofacial dysostosis Palagonia 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 Palagonia type (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysostosis\Acrofacial dysostosis Palagonia 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 Palagonia type (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Acrofacial dysostosis Palagonia type (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Acrofacial dysostosis Palagonia 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 Palagonia type (disorder)
• \Disease\trouble du développement\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Dysostosis\Acrofacial dysostosis Palagonia type (disorder)
• \Disease\trouble du développement\Developmental hereditary disorder\Acrofacial dysostosis Palagonia 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 Palagonia 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 Palagonia 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 Palagonia type (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital anomaly of face bones\Acrofacial dysostosis Palagonia 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 Palagonia type (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysostosis\Acrofacial dysostosis Palagonia 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 Palagonia type (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Acrofacial dysostosis Palagonia type (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Acrofacial dysostosis Palagonia 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
3320728018	Acrofacial dysostosis Palagonia type (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3320729014	Acrofacial dysostosis Palagonia type	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
755361000241116	dysostose acrofaciale type Palagonia (trouble)	fr	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
970531000172112	dysostose acrofaciale type Palagonia	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
3320730016	A very rare form of acrofacial dysostosis, reported in four members of a family from the Sicilian village of Palagonia. The syndrome has characteristics of normal intelligence, shortness of stature, and mild acrofacial dysostosis (malar hypoplasia, micrognathia and webbing of digits with shortening of the fourth metacarpals) associated with oligodontia, normal or high arched palate, aplasia cutis verticis with pili torti, mild cutaneous syndactyly of digits 2-5, webbing of digits and shortening of the fourth metacarpals and unilateral cleft lip.	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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