719471002: syndrome cléido-rhizomélique (trouble)

SNOMED CT Concept\constatation clinique\...

\constatation à propos du développement physiologique\anomalie staturale\insuffisance staturale\Congenital malformation syndromes associated with short stature\Mesomelic dysplasia\Cleidorhizomelic syndrome (disorder)

\constatation générale à propos de l'observation du patient\Body measurement finding\Height / growth finding\General finding of height\anomalie staturale\insuffisance staturale\Congenital malformation syndromes associated with short stature\Mesomelic dysplasia\Cleidorhizomelic syndrome (disorder)

\Musculoskeletal finding\constatation à propos de l'os\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Cleidorhizomelic syndrome (disorder)
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Cleidorhizomelic syndrome (disorder)
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\maladie chronique de l'appareil locomoteur\Mesomelic dysplasia\Cleidorhizomelic syndrome (disorder)
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Skeletal dysplasia\Mesomelic dysplasia\Cleidorhizomelic 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\Cleidorhizomelic syndrome (disorder)
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Mesomelic dysplasia\Cleidorhizomelic syndrome (disorder)
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Cleidorhizomelic syndrome (disorder)

\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Cleidorhizomelic syndrome (disorder)
\Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Cleidorhizomelic syndrome (disorder)
\Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Cleidorhizomelic syndrome (disorder)
\Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Cleidorhizomelic syndrome (disorder)
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Cleidorhizomelic syndrome (disorder)
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\maladie chronique de l'appareil locomoteur\Mesomelic dysplasia\Cleidorhizomelic syndrome (disorder)
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Skeletal dysplasia\Mesomelic dysplasia\Cleidorhizomelic 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\Cleidorhizomelic syndrome (disorder)
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Mesomelic dysplasia\Cleidorhizomelic syndrome (disorder)
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Cleidorhizomelic syndrome (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\Congenital malformation syndromes associated with short stature\Mesomelic dysplasia\Cleidorhizomelic syndrome (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Mesomelic dysplasia\Cleidorhizomelic syndrome (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Cleidorhizomelic syndrome (disorder)
\Disease\maladie chronique\maladie chronique de l'appareil locomoteur\Mesomelic dysplasia\Cleidorhizomelic syndrome (disorder)
\Disease\trouble du développement\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Cleidorhizomelic syndrome (disorder)
\Disease\trouble du développement\Developmental hereditary disorder\Cleidorhizomelic syndrome (disorder)
\Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\Congenital malformation syndromes associated with short stature\Mesomelic dysplasia\Cleidorhizomelic syndrome (disorder)
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Mesomelic dysplasia\Cleidorhizomelic syndrome (disorder)
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Cleidorhizomelic syndrome (disorder)
\Disease\trouble du développement\anomalie staturale\insuffisance staturale\Congenital malformation syndromes associated with short stature\Mesomelic dysplasia\Cleidorhizomelic syndrome (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

3316466014 Cleidorhizomelic syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3316467017 Cleidorhizomelic syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3316468010 Rhizomelic shortness with clavicular defect en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3316469019 Wallis Zieff Goldblatt syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

754251000241110 syndrome cléido-rhizomélique (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

904631000172111 syndrome cléido-rhizomélique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

905531000172113 syndrome de Wallis-Zieff-Goldblatt fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

3316470018 A rhizo-mesomelic dysplasia with characteristics of rhizomelic short stature in combination with lateral clavicular defects. Additional manifestations include brachydactyly with bilateral clinodactyly and hypoplastic middle phalanx of the fifth digit. The syndrome has been reported in one family (mother and son) and is suspected to be transmitted in an autosomal dominant manner. There have been no further descriptions in the literature since 1988. 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
Cleidorhizomelic syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Cleidorhizomelic syndrome (disorder)	localisation d'une constatation (attribut)	structure osseuse	true	Inferred relationship	Some	1
Cleidorhizomelic syndrome (disorder)	morphologie associée (attribut)	Congenital dysplasia	false	Inferred relationship	Some	1
Cleidorhizomelic syndrome (disorder)	survenue (attribut)	congénital	true	Inferred relationship	Some	1
Cleidorhizomelic syndrome (disorder)	morphologie associée (attribut)	dysplasie	true	Inferred relationship	Some	1
Cleidorhizomelic syndrome (disorder)	est un(e) (attribut)	Congenital anomaly of skeletal bone	true	Inferred relationship	Some
Cleidorhizomelic syndrome (disorder)	évolution clinique (attribut)	progressif	true	Inferred relationship	Some	2
Cleidorhizomelic syndrome (disorder)	est un(e) (attribut)	Developmental hereditary disorder	true	Inferred relationship	Some
Cleidorhizomelic syndrome (disorder)	interprète (attribut)	Height / growth measure	true	Inferred relationship	Some	3
Cleidorhizomelic syndrome (disorder)	est un(e) (attribut)	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Cleidorhizomelic syndrome (disorder)	est un(e) (attribut)	Mesomelic dysplasia	true	Inferred relationship	Some
Cleidorhizomelic syndrome (disorder)	est un(e) (attribut)	Connective tissue hereditary disorder	false	Inferred relationship	Some
Cleidorhizomelic syndrome (disorder)	est un(e) (attribut)	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Cleidorhizomelic syndrome (disorder)	morphologie associée (attribut)	Congenital dysplasia	false	Inferred relationship	Some	2
Cleidorhizomelic syndrome (disorder)	survenue (attribut)	congénital	false	Inferred relationship	Some	2
Cleidorhizomelic syndrome (disorder)	localisation d'une constatation (attribut)	structure osseuse	false	Inferred relationship	Some	2

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
3316466014	Cleidorhizomelic syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3316467017	Cleidorhizomelic syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3316468010	Rhizomelic shortness with clavicular defect	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3316469019	Wallis Zieff Goldblatt syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
754251000241110	syndrome cléido-rhizomélique (trouble)	fr	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
904631000172111	syndrome cléido-rhizomélique	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
905531000172113	syndrome de Wallis-Zieff-Goldblatt	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
3316470018	A rhizo-mesomelic dysplasia with characteristics of rhizomelic short stature in combination with lateral clavicular defects. Additional manifestations include brachydactyly with bilateral clinodactyly and hypoplastic middle phalanx of the fifth digit. The syndrome has been reported in one family (mother and son) and is suspected to be transmitted in an autosomal dominant manner. There have been no further descriptions in the literature since 1988.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core