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


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

Descriptions:

Id Description Lang Type Status Case? Module
4650621019 NEK9-related lethal skeletal dysplasia en Synonym Active Entire term case sensitive SNOMED CT core module
4650622014 NIMA related kinase 9 lethal skeletal dysplasia (disorder) en Fully specified name Active Entire term case sensitive SNOMED CT core module
4650623016 NIMA related kinase 9 lethal skeletal dysplasia en Synonym Active Entire term case sensitive SNOMED CT core module
4650625011 Lethal skeletal dysplasia, foetal akinesia, contractures, thoracic dysplasia, pulmonary hypoplasia syndrome en Synonym Active Entire term case insensitive SNOMED CT core module
4650626012 Lethal skeletal dysplasia, fetal akinesia, contractures, thoracic dysplasia, pulmonary hypoplasia syndrome en Synonym Active Entire term case insensitive SNOMED CT core module


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
NIMA related kinase 9 lethal skeletal dysplasia Is a Congenital skeletal dysplasia true Inferred relationship Existential restriction modifier
NIMA related kinase 9 lethal skeletal dysplasia Is a Inherited arthrogryposis true Inferred relationship Existential restriction modifier
NIMA related kinase 9 lethal skeletal dysplasia Is a Hereditary disorder of musculoskeletal system true Inferred relationship Existential restriction modifier
NIMA related kinase 9 lethal skeletal dysplasia Is a Multiple system malformation syndrome true Inferred relationship Existential restriction modifier
NIMA related kinase 9 lethal skeletal dysplasia Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier
NIMA related kinase 9 lethal skeletal dysplasia Interprets Range of joint movement true Inferred relationship Existential restriction modifier 3
NIMA related kinase 9 lethal skeletal dysplasia Has interpretation Decreased true Inferred relationship Existential restriction modifier 3
NIMA related kinase 9 lethal skeletal dysplasia Occurrence Congenital true Inferred relationship Existential restriction modifier 1
NIMA related kinase 9 lethal skeletal dysplasia Finding site Skeletal system structure true Inferred relationship Existential restriction modifier 1
NIMA related kinase 9 lethal skeletal dysplasia Associated morphology Dysplasia true Inferred relationship Existential restriction modifier 1
NIMA related kinase 9 lethal skeletal dysplasia Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 1
NIMA related kinase 9 lethal skeletal dysplasia Occurrence Congenital true Inferred relationship Existential restriction modifier 2
NIMA related kinase 9 lethal skeletal dysplasia Finding site Structure of joint region true Inferred relationship Existential restriction modifier 2
NIMA related kinase 9 lethal skeletal dysplasia Associated morphology Contracture true Inferred relationship Existential restriction modifier 2
NIMA related kinase 9 lethal skeletal dysplasia Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 2

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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