FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.8.2  |  FHIR Version n/a  User: [n/a]

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

Status: current, Primitive. Date: 31-Oct 2021. Module: SNOMED CT core

Descriptions:

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

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
NEK9-related lethal skeletal dysplasia Is a Congenital 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 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 Pathological developmental process true Inferred relationship Some 2
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

Back to Start