723998001: Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder)

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\Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder)

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

\Finding of head region\Orofacial cleft (disorder)\Cleft mandible\Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder)
\Finding of head region\Finding of face\Lesion of face (finding)\Cleft mandible\Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder)
\Finding of head region\Finding of face\Facial bone finding\Disorder of facial bone\Disorder of mandible\Congenital anomaly of mandible\Cleft mandible\Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot 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\Cleft mandible\Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot 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\Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot 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\Robin sequence (disorder)\Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot 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\Cleft mandible\Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder)
\Finding of head region\Finding of face\Disorder of face (disorder)\Disorder of facial bone\Disorder of mandible\Congenital anomaly of mandible\Cleft mandible\Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot 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\Cleft mandible\Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder)
\Finding of head region\affection de la mâchoire\Disorder of mandible\Congenital anomaly of mandible\Cleft mandible\Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder)
\Finding of head region\affection de la mâchoire\Congenital anomaly of jaw\Congenital anomaly of mandible\Cleft mandible\Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot 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\Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder)
\affection de la tête\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Robin sequence (disorder)\Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder)
\affection de la tête\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Congenital anomaly of face bones\Congenital anomaly of mandible\Cleft mandible\Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder)
\affection de la tête\Disorder of face (disorder)\Disorder of facial bone\Disorder of mandible\Congenital anomaly of mandible\Cleft mandible\Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder)
\affection de la tête\Disorder of face (disorder)\Disorder of facial bone\Congenital anomaly of face bones\Congenital anomaly of mandible\Cleft mandible\Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder)
\affection de la tête\Congenital anomaly of head\Craniofacial cleft (disorder)\Orofacial cleft (disorder)\Cleft mandible\Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot 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\Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder)
\affection de la tête\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Robin sequence (disorder)\Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder)
\affection de la tête\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital anomaly of face bones\Congenital anomaly of mandible\Cleft mandible\Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot 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\Cleft mandible\Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder)
\affection de la tête\Congenital anomaly of head\Congenital anomaly of jaw\Congenital anomaly of mandible\Cleft mandible\Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder)
\affection de la tête\affection de la mâchoire\Disorder of mandible\Congenital anomaly of mandible\Cleft mandible\Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder)
\affection de la tête\affection de la mâchoire\Congenital anomaly of jaw\Congenital anomaly of mandible\Cleft mandible\Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder)

\Musculoskeletal finding\constatation à propos de l'os\Facial bone finding\Disorder of facial bone\Disorder of mandible\Congenital anomaly of mandible\Cleft mandible\Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder)
\Musculoskeletal finding\constatation à propos de l'os\Facial bone finding\Disorder of facial bone\Congenital anomaly of face bones\Congenital anomaly of mandible\Cleft mandible\Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (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\Congenital anomaly of mandible\Cleft mandible\Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder)
\Musculoskeletal finding\constatation à propos de l'os\Disorder of bone (disorder)\Disorder of facial bone\Disorder of mandible\Congenital anomaly of mandible\Cleft mandible\Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder)
\Musculoskeletal finding\constatation à propos de l'os\Disorder of bone (disorder)\Disorder of facial bone\Congenital anomaly of face bones\Congenital anomaly of mandible\Cleft mandible\Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder)
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (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\Congenital anomaly of mandible\Cleft mandible\Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder)
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of facial bone\Disorder of mandible\Congenital anomaly of mandible\Cleft mandible\Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (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\Congenital anomaly of mandible\Cleft mandible\Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (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\Congenital anomaly of mandible\Cleft mandible\Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder)

\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder)
\Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder)
\Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder)
\Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder)
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot 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\Cleft mandible\Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot 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\Cleft mandible\Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot 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\Cleft mandible\Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot 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\Cleft mandible\Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder)
\Disease\affection d'une extrémité\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot 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\Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot 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\Robin sequence (disorder)\Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot 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\Cleft mandible\Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder)
\Disease\affection de la tête\Disorder of face (disorder)\Disorder of facial bone\Disorder of mandible\Congenital anomaly of mandible\Cleft mandible\Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder)
\Disease\affection de la tête\Disorder of face (disorder)\Disorder of facial bone\Congenital anomaly of face bones\Congenital anomaly of mandible\Cleft mandible\Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder)
\Disease\affection de la tête\Congenital anomaly of head\Craniofacial cleft (disorder)\Orofacial cleft (disorder)\Cleft mandible\Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot 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\Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot 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\Robin sequence (disorder)\Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot 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\Cleft mandible\Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot 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\Cleft mandible\Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder)
\Disease\affection de la tête\Congenital anomaly of head\Congenital anomaly of jaw\Congenital anomaly of mandible\Cleft mandible\Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder)
\Disease\affection de la tête\affection de la mâchoire\Disorder of mandible\Congenital anomaly of mandible\Cleft mandible\Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder)
\Disease\affection de la tête\affection de la mâchoire\Congenital anomaly of jaw\Congenital anomaly of mandible\Cleft mandible\Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot 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\Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with facial defects as major feature\Robin sequence (disorder)\Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot 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\Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Craniofacial cleft (disorder)\Orofacial cleft (disorder)\Cleft mandible\Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot 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\Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot 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\Robin sequence (disorder)\Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot 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\Cleft mandible\Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot 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\Cleft mandible\Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of jaw\Congenital anomaly of mandible\Cleft mandible\Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot 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\Cleft mandible\Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot 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\Cleft mandible\Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder)
\Disease\trouble du développement\Developmental hereditary disorder\Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot 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\Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot 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\Robin sequence (disorder)\Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot 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\Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder)
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\Craniofacial cleft (disorder)\Orofacial cleft (disorder)\Cleft mandible\Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot 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\Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot 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\Robin sequence (disorder)\Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot 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\Cleft mandible\Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot 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\Cleft mandible\Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder)
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\Congenital anomaly of jaw\Congenital anomaly of mandible\Cleft mandible\Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot 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\Cleft mandible\Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder)
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot 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

3498174017 Robin sequence with cleft mandible and limb anomalies syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3498175016 Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3498176015 Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3498177012 Richieri Costa Pereira syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3499906011 Syndrome with characteristics of short stature, Robin sequence, cleft mandible, pre/postaxial hand anomalies (including hypoplastic thumbs) and clubfoot. It has been described in 14 Brazilian families and in one unrelated French patient. Prominent low set ears and highly arched palate was also observed. Transmission is autosomal recessive. There is evidence this syndrome is caused by homozygous or compound heterozygous mutation in the EIF4A3 gene on chromosome 17q25. 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
Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder)	survenue (attribut)	congénital	true	Inferred relationship	Some	1
Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder)	morphologie associée (attribut)	structure anormale sur le plan morphologique	true	Inferred relationship	Some	2
Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder)	localisation d'une constatation (attribut)	os de la mandibule	true	Inferred relationship	Some	1
Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder)	morphologie associée (attribut)	Developmental failure of fusion (morphologic abnormality)	true	Inferred relationship	Some	1
Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder)	morphologie associée (attribut)	structure anormale sur le plan morphologique	false	Inferred relationship	Some	3
Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder)	localisation d'une constatation (attribut)	face	false	Inferred relationship	Some	3
Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	false	Inferred relationship	Some	3
Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder)	est un(e) (attribut)	Developmental hereditary disorder	true	Inferred relationship	Some
Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder)	est un(e) (attribut)	Robin sequence (disorder)	true	Inferred relationship	Some
Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder)	est un(e) (attribut)	Multiple malformation syndrome with facial-limb defects as major feature	true	Inferred relationship	Some
Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder)	est un(e) (attribut)	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder)	est un(e) (attribut)	Cleft mandible	true	Inferred relationship	Some
Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder)	est un(e) (attribut)	Connective tissue hereditary disorder	false	Inferred relationship	Some
Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder)	est un(e) (attribut)	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder)	survenue (attribut)	congénital	true	Inferred relationship	Some	2
Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder)	localisation d'une constatation (attribut)	structure d'un membre	true	Inferred relationship	Some	2
Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder)	survenue (attribut)	congénital	false	Inferred relationship	Some	3
Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder)	localisation d'une constatation (attribut)	os de la mandibule	false	Inferred relationship	Some	2
Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder)	morphologie associée (attribut)	Developmental abnormality	false	Inferred relationship	Some	3
Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder)	localisation d'une constatation (attribut)	structure d'un membre	false	Inferred relationship	Some	3
Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder)	morphologie associée (attribut)	Developmental failure of fusion (morphologic abnormality)	false	Inferred relationship	Some	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
3498174017	Robin sequence with cleft mandible and limb anomalies syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3498175016	Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3498176015	Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3498177012	Richieri Costa Pereira syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3499906011	Syndrome with characteristics of short stature, Robin sequence, cleft mandible, pre/postaxial hand anomalies (including hypoplastic thumbs) and clubfoot. It has been described in 14 Brazilian families and in one unrelated French patient. Prominent low set ears and highly arched palate was also observed. Transmission is autosomal recessive. There is evidence this syndrome is caused by homozygous or compound heterozygous mutation in the EIF4A3 gene on chromosome 17q25.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core