93132001: Lethal Kniest-like syndrome (disorder)

SNOMED CT Concept\constatation clinique\...

\Musculoskeletal finding\constatation à propos de l'os\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Lethal Kniest-like syndrome
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Lethal Kniest-like syndrome
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Skeletal dysplasia\Lethal Kniest-like syndrome
\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\Lethal Kniest-like syndrome
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Lethal Kniest-like syndrome
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Lethal Kniest-like syndrome

\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Lethal Kniest-like syndrome
\Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Lethal Kniest-like syndrome
\Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Lethal Kniest-like syndrome
\Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Lethal Kniest-like syndrome
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Lethal Kniest-like syndrome
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Skeletal dysplasia\Lethal Kniest-like syndrome
\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\Lethal Kniest-like syndrome
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Lethal Kniest-like syndrome
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Lethal Kniest-like syndrome
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Osteochondrodysplasia syndrome\Lethal Kniest-like syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Lethal Kniest-like syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Lethal Kniest-like syndrome
\Disease\trouble du développement\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Lethal Kniest-like syndrome
\Disease\trouble du développement\Developmental hereditary disorder\Lethal Kniest-like syndrome
\Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Osteochondrodysplasia syndrome\Lethal Kniest-like syndrome
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Lethal Kniest-like syndrome
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Lethal Kniest-like syndrome

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

154078010 Lethal Kniest-like syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

836802013 Lethal Kniest-like syndrome (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
Lethal Kniest-like syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Lethal Kniest-like syndrome	survenue (attribut)	congénital	true	Inferred relationship	Some	1
Lethal Kniest-like syndrome	est un(e) (attribut)	Skeletal dysplasia	true	Inferred relationship	Some
Lethal Kniest-like syndrome	est un(e) (attribut)	Congenital anomaly of skeletal bone	true	Inferred relationship	Some
Lethal Kniest-like syndrome	est un(e) (attribut)	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Lethal Kniest-like syndrome	est un(e) (attribut)	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Lethal Kniest-like syndrome	est un(e) (attribut)	Osteochondrodysplasia syndrome	true	Inferred relationship	Some
Lethal Kniest-like syndrome	est un(e) (attribut)	Developmental hereditary disorder	true	Inferred relationship	Some
Lethal Kniest-like syndrome	morphologie associée (attribut)	Congenital dysplasia	false	Inferred relationship	Some	1
Lethal Kniest-like syndrome	morphologie associée (attribut)	Congenital malformation	false	Inferred relationship	Some
Lethal Kniest-like syndrome	est un(e) (attribut)	Kniest-Stickler dysplasia group	false	Inferred relationship	Some
Lethal Kniest-like syndrome	morphologie associée (attribut)	Congenital dysplasia	false	Inferred relationship	Some	1
Lethal Kniest-like syndrome	localisation d'une constatation (attribut)	structure osseuse	false	Inferred relationship	Some	1
Lethal Kniest-like syndrome	survenue (attribut)	congénital	false	Inferred relationship	Some	2
Lethal Kniest-like syndrome	localisation d'une constatation (attribut)	structure osseuse	false	Inferred relationship	Some	2
Lethal Kniest-like syndrome	morphologie associée (attribut)	Congenital dysplasia	false	Inferred relationship	Some	2
Lethal Kniest-like syndrome	morphologie associée (attribut)	dysplasie	true	Inferred relationship	Some	1
Lethal Kniest-like syndrome	localisation d'une constatation (attribut)	Skeletal system structure	false	Inferred relationship	Some	1
Lethal Kniest-like syndrome	survenue (attribut)	congénital	false	Inferred relationship	Some
Lethal Kniest-like syndrome	localisation d'une constatation (attribut)	structure osseuse	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Client's clinical problems, conditions, diagnoses, symptoms, findings, complaints reference set (foundation metadata concept)

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
154078010	Lethal Kniest-like syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
836802013	Lethal Kniest-like syndrome (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core