7720002: Metaphyseal chondrodysplasia, McKusick type (disorder)

SNOMED CT Concept\constatation clinique\...

\constatation à propos du développement physiologique\anomalie staturale\insuffisance staturale\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Metaphyseal chondrodysplasia, McKusick type

\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\Metaphyseal chondrodysplasia\Metaphyseal chondrodysplasia, McKusick type

\Musculoskeletal finding\constatation à propos d'un cartilage\affection du cartilage (trouble)\Osteochondropathy\Metaphyseal chondrodysplasia, McKusick type
\Musculoskeletal finding\constatation à propos d'un cartilage\affection du cartilage (trouble)\Congenital anomaly of cartilage\Metaphyseal chondrodysplasia, McKusick type
\Musculoskeletal finding\constatation à propos de l'os\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Metaphyseal chondrodysplasia, McKusick type
\Musculoskeletal finding\constatation à propos de l'os\Disorder of bone (disorder)\Osteochondropathy\Metaphyseal chondrodysplasia, McKusick type
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Metaphyseal chondrodysplasia, McKusick type
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Musculoskeletal and connective tissue disorder (disorder)\affection du cartilage (trouble)\Osteochondropathy\Metaphyseal chondrodysplasia, McKusick type
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Musculoskeletal and connective tissue disorder (disorder)\affection du cartilage (trouble)\Congenital anomaly of cartilage\Metaphyseal chondrodysplasia, McKusick type
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Metaphyseal chondrodysplasia, McKusick type
\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\Metaphyseal chondrodysplasia\Metaphyseal chondrodysplasia, McKusick type
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Disorder of bone (disorder)\Osteochondropathy\Metaphyseal chondrodysplasia, McKusick type
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\affection du cartilage (trouble)\Osteochondropathy\Metaphyseal chondrodysplasia, McKusick type
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\affection du cartilage (trouble)\Congenital anomaly of cartilage\Metaphyseal chondrodysplasia, McKusick type
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Metaphyseal chondrodysplasia, McKusick type
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of cartilage\Metaphyseal chondrodysplasia, McKusick type
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Metaphyseal chondrodysplasia, McKusick type

\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Metaphyseal chondrodysplasia, McKusick type
\Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Metaphyseal chondrodysplasia, McKusick type
\Disease\Genetic disease\maladie héréditaire\Connective tissue hereditary disorder\Metaphyseal chondrodysplasia, McKusick type
\Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Metaphyseal chondrodysplasia, McKusick type
\Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Metaphyseal chondrodysplasia, McKusick type
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Metaphyseal chondrodysplasia, McKusick type
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Musculoskeletal and connective tissue disorder (disorder)\affection du cartilage (trouble)\Osteochondropathy\Metaphyseal chondrodysplasia, McKusick type
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Musculoskeletal and connective tissue disorder (disorder)\affection du cartilage (trouble)\Congenital anomaly of cartilage\Metaphyseal chondrodysplasia, McKusick type
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Metaphyseal chondrodysplasia, McKusick type
\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\Metaphyseal chondrodysplasia\Metaphyseal chondrodysplasia, McKusick type
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Disorder of bone (disorder)\Osteochondropathy\Metaphyseal chondrodysplasia, McKusick type
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\affection du cartilage (trouble)\Osteochondropathy\Metaphyseal chondrodysplasia, McKusick type
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\affection du cartilage (trouble)\Congenital anomaly of cartilage\Metaphyseal chondrodysplasia, McKusick type
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Metaphyseal chondrodysplasia, McKusick type
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of cartilage\Metaphyseal chondrodysplasia, McKusick type
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Metaphyseal chondrodysplasia, McKusick type
\Disease\affection du tissu conjonctif\Connective tissue hereditary disorder\Metaphyseal chondrodysplasia, McKusick type
\Disease\affection du tissu conjonctif\affection congénitale du tissu conjonctif\Congenital anomaly of cartilage\Metaphyseal chondrodysplasia, McKusick type
\Disease\affection du tissu conjonctif\Musculoskeletal and connective tissue disorder (disorder)\affection du cartilage (trouble)\Osteochondropathy\Metaphyseal chondrodysplasia, McKusick type
\Disease\affection du tissu conjonctif\Musculoskeletal and connective tissue disorder (disorder)\affection du cartilage (trouble)\Congenital anomaly of cartilage\Metaphyseal chondrodysplasia, McKusick type
\Disease\Congenital disease\affection congénitale du tissu conjonctif\Congenital anomaly of cartilage\Metaphyseal chondrodysplasia, McKusick type
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Metaphyseal chondrodysplasia, McKusick type
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Metaphyseal chondrodysplasia, McKusick type
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of cartilage\Metaphyseal chondrodysplasia, McKusick type
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Metaphyseal chondrodysplasia, McKusick type
\Disease\trouble du développement\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Metaphyseal chondrodysplasia, McKusick type
\Disease\trouble du développement\Developmental hereditary disorder\Metaphyseal chondrodysplasia, McKusick type
\Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Metaphyseal chondrodysplasia, McKusick type
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Metaphyseal chondrodysplasia, McKusick type
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of cartilage\Metaphyseal chondrodysplasia, McKusick type
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Metaphyseal chondrodysplasia, McKusick type
\Disease\trouble du développement\anomalie staturale\insuffisance staturale\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Metaphyseal chondrodysplasia, McKusick type

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

1234077015 Cartilage hair syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

13769017 Metaphyseal chondrodysplasia, McKusick type en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

13770016 Cartilage-hair hypoplasia syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

818004014 Metaphyseal chondrodysplasia, McKusick type (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Metaphyseal chondrodysplasia, McKusick type	localisation d'une constatation (attribut)	Cartilage structure (body structure)	true	Inferred relationship	Some	2
Metaphyseal chondrodysplasia, McKusick type	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Metaphyseal chondrodysplasia, McKusick type	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Metaphyseal chondrodysplasia, McKusick type	morphologie associée (attribut)	Congenital dysplasia	false	Inferred relationship	Some	1
Metaphyseal chondrodysplasia, McKusick type	survenue (attribut)	congénital	true	Inferred relationship	Some	1
Metaphyseal chondrodysplasia, McKusick type	est un(e) (attribut)	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Metaphyseal chondrodysplasia, McKusick type	est un(e) (attribut)	Connective tissue hereditary disorder	true	Inferred relationship	Some
Metaphyseal chondrodysplasia, McKusick type	est un(e) (attribut)	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Metaphyseal chondrodysplasia, McKusick type	survenue (attribut)	congénital	true	Inferred relationship	Some	2
Metaphyseal chondrodysplasia, McKusick type	est un(e) (attribut)	Developmental hereditary disorder	true	Inferred relationship	Some
Metaphyseal chondrodysplasia, McKusick type	interprète (attribut)	Height / growth measure	true	Inferred relationship	Some	3
Metaphyseal chondrodysplasia, McKusick type	morphologie associée (attribut)	Congenital dysplasia	false	Inferred relationship	Some	2
Metaphyseal chondrodysplasia, McKusick type	est un(e) (attribut)	Osteochondropathy	true	Inferred relationship	Some
Metaphyseal chondrodysplasia, McKusick type	localisation d'une constatation (attribut)	structure osseuse	false	Inferred relationship	Some	2
Metaphyseal chondrodysplasia, McKusick type	localisation d'une constatation (attribut)	structure osseuse	false	Inferred relationship	Some	1
Metaphyseal chondrodysplasia, McKusick type	localisation d'une constatation (attribut)	structure osseuse	false	Inferred relationship	Some	2
Metaphyseal chondrodysplasia, McKusick type	localisation d'une constatation (attribut)	structure osseuse	false	Inferred relationship	Some	1
Metaphyseal chondrodysplasia, McKusick type	localisation d'une constatation (attribut)	structure osseuse	false	Inferred relationship	Some	1
Metaphyseal chondrodysplasia, McKusick type	localisation d'une constatation (attribut)	structure osseuse	false	Inferred relationship	Some	2
Metaphyseal chondrodysplasia, McKusick type	est un(e) (attribut)	Metaphyseal chondrodysplasia	true	Inferred relationship	Some
Metaphyseal chondrodysplasia, McKusick type	est un(e) (attribut)	Congenital anomaly of cartilage	true	Inferred relationship	Some
Metaphyseal chondrodysplasia, McKusick type	localisation d'une constatation (attribut)	structure osseuse	false	Inferred relationship	Some	1
Metaphyseal chondrodysplasia, McKusick type	localisation d'une constatation (attribut)	structure osseuse	false	Inferred relationship	Some	2
Metaphyseal chondrodysplasia, McKusick type	localisation d'une constatation (attribut)	structure osseuse	false	Inferred relationship	Some	1
Metaphyseal chondrodysplasia, McKusick type	localisation d'une constatation (attribut)	structure osseuse	false	Inferred relationship	Some	2
Metaphyseal chondrodysplasia, McKusick type	localisation d'une constatation (attribut)	structure osseuse	false	Inferred relationship	Some	1
Metaphyseal chondrodysplasia, McKusick type	localisation d'une constatation (attribut)	structure osseuse	false	Inferred relationship	Some	2
Metaphyseal chondrodysplasia, McKusick type	localisation d'une constatation (attribut)	structure osseuse	false	Inferred relationship	Some	1
Metaphyseal chondrodysplasia, McKusick type	localisation d'une constatation (attribut)	structure osseuse	false	Inferred relationship	Some	2
Metaphyseal chondrodysplasia, McKusick type	survenue (attribut)	congénital	false	Inferred relationship	Some	3
Metaphyseal chondrodysplasia, McKusick type	localisation d'une constatation (attribut)	structure osseuse	false	Inferred relationship	Some	3
Metaphyseal chondrodysplasia, McKusick type	morphologie associée (attribut)	Congenital dysplasia	false	Inferred relationship	Some	3
Metaphyseal chondrodysplasia, McKusick type	localisation d'une constatation (attribut)	Cartilaginous tissue structure	false	Inferred relationship	Some	1
Metaphyseal chondrodysplasia, McKusick type	morphologie associée (attribut)	dysplasie	true	Inferred relationship	Some	1
Metaphyseal chondrodysplasia, McKusick type	localisation d'une constatation (attribut)	structure osseuse	true	Inferred relationship	Some	1
Metaphyseal chondrodysplasia, McKusick type	morphologie associée (attribut)	Hypoplasia (morphologic abnormality)	false	Inferred relationship	Some	1
Metaphyseal chondrodysplasia, McKusick type	survenue (attribut)	congénital	false	Inferred relationship	Some
Metaphyseal chondrodysplasia, McKusick type	localisation d'une constatation (attribut)	Skeletal system structure	false	Inferred relationship	Some	1
Metaphyseal chondrodysplasia, McKusick type	localisation d'une constatation (attribut)	Cartilaginous tissue structure	false	Inferred relationship	Some	2
Metaphyseal chondrodysplasia, McKusick type	morphologie associée (attribut)	Hypoplasia (morphologic abnormality)	true	Inferred relationship	Some	2

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Metaphyseal chondrodysplasia, McKusick type with associated immunodeficiency	est un(e) (attribut)	False	Metaphyseal chondrodysplasia, McKusick type	Inferred relationship	Some

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
1234077015	Cartilage hair syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
13769017	Metaphyseal chondrodysplasia, McKusick type	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
13770016	Cartilage-hair hypoplasia syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
818004014	Metaphyseal chondrodysplasia, McKusick type (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core