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1179299005: NIMA related kinase 9 lethal skeletal dysplasia (disorder)

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
5399490016 NEK9-related lethal skeletal dysplasia is a rare, lethal, primary bone dysplasia characterized by 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
5399491017 NEK9-related lethal skeletal dysplasia is a rare, lethal, primary bone dysplasia characterised by 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
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
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
5399490016 NEK9-related lethal skeletal dysplasia is a rare, lethal, primary bone dysplasia characterized by 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
5399491017 NEK9-related lethal skeletal dysplasia is a rare, lethal, primary bone dysplasia characterised by 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
3453981001000117 NEK9-assoziierte letale Skelettdysplasie de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3453981001000117 NEK9-assoziierte letale Skelettdysplasie de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
NIMA related kinase 9 lethal skeletal dysplasia (disorder) Is a Skeletal dysplasia true Inferred relationship Existential restriction modifier (core metadata concept)
NIMA related kinase 9 lethal skeletal dysplasia (disorder) Is a Inherited arthrogryposis true Inferred relationship Existential restriction modifier (core metadata concept)
NIMA related kinase 9 lethal skeletal dysplasia (disorder) Is a Hereditary disorder of musculoskeletal system false Inferred relationship Existential restriction modifier (core metadata concept)
NIMA related kinase 9 lethal skeletal dysplasia (disorder) Is a Multiple system malformation syndrome true Inferred relationship Existential restriction modifier (core metadata concept)
NIMA related kinase 9 lethal skeletal dysplasia (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
NIMA related kinase 9 lethal skeletal dysplasia (disorder) Interprets Range of joint movement true Inferred relationship Existential restriction modifier (core metadata concept) 3
NIMA related kinase 9 lethal skeletal dysplasia (disorder) Has interpretation Decreased true Inferred relationship Existential restriction modifier (core metadata concept) 3
NIMA related kinase 9 lethal skeletal dysplasia (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
NIMA related kinase 9 lethal skeletal dysplasia (disorder) Finding site Skeletal system structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
NIMA related kinase 9 lethal skeletal dysplasia (disorder) Associated morphology Dysplasia true Inferred relationship Existential restriction modifier (core metadata concept) 1
NIMA related kinase 9 lethal skeletal dysplasia (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
NIMA related kinase 9 lethal skeletal dysplasia (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
NIMA related kinase 9 lethal skeletal dysplasia (disorder) Finding site Structure of joint region true Inferred relationship Existential restriction modifier (core metadata concept) 2
NIMA related kinase 9 lethal skeletal dysplasia (disorder) Associated morphology Contracture true Inferred relationship Existential restriction modifier (core metadata concept) 2
NIMA related kinase 9 lethal skeletal dysplasia (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
NIMA related kinase 9 lethal skeletal dysplasia (disorder) Finding site Joint structure of multiple body sites (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 4
NIMA related kinase 9 lethal skeletal dysplasia (disorder) Associated morphology Contracture true Inferred relationship Existential restriction modifier (core metadata concept) 4
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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