1179299005: 'NIMA-related kinase 9' letale skeletdysplasie (aandoening)

SNOMED CT Concept\Clinical finding (finding)\...

\Deformity (finding)\Congenital deformity\Arthrogryposis\Inherited arthrogryposis\NEK9-related lethal skeletal dysplasia
\Deformity (finding)\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\NEK9-related lethal skeletal dysplasia

\Finding of movement (finding)\Finding of joint movement\Finding of range of joint movement\Limitation of joint movement\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\NEK9-related lethal skeletal dysplasia
\Finding of movement (finding)\Movement disorder\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\NEK9-related lethal skeletal dysplasia

\Musculoskeletal finding\Disorder of musculoskeletal system\...

\Hereditary disorder of musculoskeletal system\NEK9-related lethal skeletal dysplasia

\Disorder of skeletal system\Skeletal dysplasia\NEK9-related lethal skeletal dysplasia

\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\NEK9-related lethal skeletal dysplasia

\Disease\Disorder of joint region\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\NEK9-related lethal skeletal dysplasia
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\NEK9-related lethal skeletal dysplasia
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Inherited arthrogryposis\NEK9-related lethal skeletal dysplasia
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\NEK9-related lethal skeletal dysplasia
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital dysplasia (disorder)\Skeletal dysplasia\NEK9-related lethal skeletal dysplasia
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\NEK9-related lethal skeletal dysplasia
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital deformity\Arthrogryposis\Inherited arthrogryposis\NEK9-related lethal skeletal dysplasia
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\NEK9-related lethal skeletal dysplasia
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\NEK9-related lethal skeletal dysplasia
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\NEK9-related lethal skeletal dysplasia
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\NEK9-related lethal skeletal dysplasia
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\NEK9-related lethal skeletal dysplasia
\Disease\Movement disorder\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\NEK9-related lethal skeletal dysplasia
\Disease\Developmental disorder\Developmental hereditary disorder\Inherited arthrogryposis\NEK9-related lethal skeletal dysplasia
\Disease\Developmental disorder\Congenital malformation\Congenital dysplasia (disorder)\Skeletal dysplasia\NEK9-related lethal skeletal dysplasia
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\NEK9-related lethal skeletal dysplasia
\Disease\Developmental disorder\Congenital malformation\Congenital deformity\Arthrogryposis\Inherited arthrogryposis\NEK9-related lethal skeletal dysplasia
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\NEK9-related lethal skeletal dysplasia

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Oct 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

4650621019 NEK9-related lethal skeletal dysplasia en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

4650622014 NIMA related kinase 9 lethal skeletal dysplasia (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core

4650623016 NIMA related kinase 9 lethal skeletal dysplasia en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

4650625011 Lethal skeletal dysplasia, foetal akinesia, contractures, thoracic dysplasia, pulmonary hypoplasia syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

4650626012 Lethal skeletal dysplasia, fetal akinesia, contractures, thoracic dysplasia, pulmonary hypoplasia syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

13246671000146114 'NIMA-related kinase 9' letale skeletdysplasie nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

13246681000146111 NEK9-gerelateerde letale skeletdysplasie nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

13246691000146113 'NIMA-related kinase 9' letale skeletdysplasie (aandoening) nl Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

13246701000146113 syndroom van letale skeletdysplasie, foetale akinesie, contractuur, thoracale dysplasie en pulmonale hypoplasie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

4650624010 A rare lethal primary bone dysplasia with characteristics of fetal akinesia, multiple contractures, shortening of all long bones, short, broad ribs, narrow chest and thorax, pulmonary hypoplasia and a protruding abdomen. Short bowed femurs may also be associated. 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
NEK9-related lethal skeletal dysplasia	Is a	Skeletal dysplasia	true	Inferred relationship	Some
NEK9-related lethal skeletal dysplasia	Is a	Inherited arthrogryposis	true	Inferred relationship	Some
NEK9-related lethal skeletal dysplasia	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
NEK9-related lethal skeletal dysplasia	Is a	Multiple system malformation syndrome	true	Inferred relationship	Some
NEK9-related lethal skeletal dysplasia	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
NEK9-related lethal skeletal dysplasia	Interprets	Range of joint movement	true	Inferred relationship	Some	3
NEK9-related lethal skeletal dysplasia	Has interpretation	Decreased	true	Inferred relationship	Some	3
NEK9-related lethal skeletal dysplasia	Occurrence	Congenital	true	Inferred relationship	Some	1
NEK9-related lethal skeletal dysplasia	Finding site	Skeletal system structure	true	Inferred relationship	Some	1
NEK9-related lethal skeletal dysplasia	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
NEK9-related lethal skeletal dysplasia	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
NEK9-related lethal skeletal dysplasia	Occurrence	Congenital	true	Inferred relationship	Some	2
NEK9-related lethal skeletal dysplasia	Finding site	Structure of joint region	true	Inferred relationship	Some	2
NEK9-related lethal skeletal dysplasia	Associated morphology	Contracture	true	Inferred relationship	Some	2
NEK9-related lethal skeletal dysplasia	Pathological process (attribute)	Pathological developmental process	true	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
4650621019	NEK9-related lethal skeletal dysplasia	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4650622014	NIMA related kinase 9 lethal skeletal dysplasia (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4650623016	NIMA related kinase 9 lethal skeletal dysplasia	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4650625011	Lethal skeletal dysplasia, foetal akinesia, contractures, thoracic dysplasia, pulmonary hypoplasia syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4650626012	Lethal skeletal dysplasia, fetal akinesia, contractures, thoracic dysplasia, pulmonary hypoplasia syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
13246671000146114	'NIMA-related kinase 9' letale skeletdysplasie	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
13246681000146111	NEK9-gerelateerde letale skeletdysplasie	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
13246691000146113	'NIMA-related kinase 9' letale skeletdysplasie (aandoening)	nl	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
13246701000146113	syndroom van letale skeletdysplasie, foetale akinesie, contractuur, thoracale dysplasie en pulmonale hypoplasie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
4650624010	A rare lethal primary bone dysplasia with characteristics of fetal akinesia, multiple contractures, shortening of all long bones, short, broad ribs, narrow chest and thorax, pulmonary hypoplasia and a protruding abdomen. Short bowed femurs may also be associated.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core