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363045008: Connective tissue hereditary disorder (disorder)

Status: current, Defined. Date: 31-Jul 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3038367019 Inherited disorder of connective tissue en Synonym Active Case insensitive SNOMED CT core
482180014 Connective tissue hereditary disorder en Synonym Active Case insensitive SNOMED CT core
754824015 Connective tissue hereditary disorder (disorder) en Fully specified name Active Case insensitive SNOMED CT core

149 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Inherited disorder of connective tissue Is a Disorder of connective tissue true Inferred relationship Some
Inherited disorder of connective tissue Is a Hereditary disorder by system false Inferred relationship Some
Inherited disorder of connective tissue Finding site Connective tissue structure true Inferred relationship Some 1
Inherited disorder of connective tissue Finding site Body system structure false Inferred relationship Some
Inherited disorder of connective tissue Is a Hereditary disease false Inferred relationship Some
Inherited disorder of connective tissue Is a Hereditary disease true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Summitt syndrome Is a False Inherited disorder of connective tissue Inferred relationship Some
46,XX disorder of sex development with skeletal anomalies syndrome Is a False Inherited disorder of connective tissue Inferred relationship Some
Acral dystrophic epidermolysis bullosa Is a False Inherited disorder of connective tissue Inferred relationship Some
SCARF syndrome Is a False Inherited disorder of connective tissue Inferred relationship Some
Vitamin D-dependent rickets Is a False Inherited disorder of connective tissue Inferred relationship Some
Goldenhar syndrome Is a False Inherited disorder of connective tissue Inferred relationship Some
Autosomal dominant tubulointerstitial disease Is a False Inherited disorder of connective tissue Inferred relationship Some
Connective tissue disorder due to lysyl hydroxylase-3 deficiency Is a False Inherited disorder of connective tissue Inferred relationship Some
Cerebrofacioarticular syndrome Is a False Inherited disorder of connective tissue Inferred relationship Some
Velofacioskeletal syndrome Is a False Inherited disorder of connective tissue Inferred relationship Some
White forelock with malformations syndrome Is a False Inherited disorder of connective tissue Inferred relationship Some
Larsen-like syndrome B3GAT3 type Is a False Inherited disorder of connective tissue Inferred relationship Some
Keipert syndrome Is a False Inherited disorder of connective tissue Inferred relationship Some
Spondyloperipheral dysplasia Is a False Inherited disorder of connective tissue Inferred relationship Some
Spondyloepimetaphyseal dysplasia Handigodu type Is a False Inherited disorder of connective tissue Inferred relationship Some
Spondyloepimetaphyseal dysplasia anauxetic type Is a False Inherited disorder of connective tissue Inferred relationship Some
Colobomatous microphthalmia, rhizomelic dysplasia syndrome Is a False Inherited disorder of connective tissue Inferred relationship Some
Dyssegmental dysplasia Silverman Handmaker type Is a False Inherited disorder of connective tissue Inferred relationship Some
Cono-spondylar dysplasia Is a False Inherited disorder of connective tissue Inferred relationship Some
Spondyloepimetaphyseal dysplasia with multiple dislocations Is a False Inherited disorder of connective tissue Inferred relationship Some
Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome Is a True Inherited disorder of connective tissue Inferred relationship Some
Multicentric carpotarsal osteolysis syndrome Is a False Inherited disorder of connective tissue Inferred relationship Some
Otopalatodigital syndrome Is a False Inherited disorder of connective tissue Inferred relationship Some
Hereditary fibrosing poikiloderma, tendon contractures, myopathy, pulmonary fibrosis syndrome Is a True Inherited disorder of connective tissue Inferred relationship Some

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Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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