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1255278004: X-linked myotubular myopathy, abnormal genitalia syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Oct 2022. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module
5145830015 X-linked myotubular myopathy, abnormal genitalia syndrome (disorder) en Fully specified name Active Entire term case sensitive SNOMED CT core module
5145831016 Xq28 contiguous gene deletion syndrome en Synonym Active Entire term case sensitive SNOMED CT core module
5145832011 X-linked myotubular myopathy, abnormal genitalia syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
X-linked myotubular myopathy, abnormal genitalia syndrome Is a Anomaly of chromosome X true Inferred relationship Existential restriction modifier
X-linked myotubular myopathy, abnormal genitalia syndrome Is a Disorder of male reproductive system true Inferred relationship Existential restriction modifier
X-linked myotubular myopathy, abnormal genitalia syndrome Is a Congenital anomaly of male urogenital tract true Inferred relationship Existential restriction modifier
X-linked myotubular myopathy, abnormal genitalia syndrome Is a Genetic disease true Inferred relationship Existential restriction modifier
X-linked myotubular myopathy, abnormal genitalia syndrome Is a Myotubular myopathy true Inferred relationship Existential restriction modifier
X-linked myotubular myopathy, abnormal genitalia syndrome Is a 46,XY disorder of sex development true Inferred relationship Existential restriction modifier
X-linked myotubular myopathy, abnormal genitalia syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier 1
X-linked myotubular myopathy, abnormal genitalia syndrome Finding site Skeletal muscle structure true Inferred relationship Existential restriction modifier 1
X-linked myotubular myopathy, abnormal genitalia syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier 1
X-linked myotubular myopathy, abnormal genitalia syndrome Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 1
X-linked myotubular myopathy, abnormal genitalia syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier 2
X-linked myotubular myopathy, abnormal genitalia syndrome Finding site Male genital structure true Inferred relationship Existential restriction modifier 2
X-linked myotubular myopathy, abnormal genitalia syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier 2
X-linked myotubular myopathy, abnormal genitalia syndrome Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 2
X-linked myotubular myopathy, abnormal genitalia syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier 3
X-linked myotubular myopathy, abnormal genitalia syndrome Finding site Long arm of chromosome true Inferred relationship Existential restriction modifier 3
X-linked myotubular myopathy, abnormal genitalia syndrome Associated morphology Partial deletion true Inferred relationship Existential restriction modifier 3
X-linked myotubular myopathy, abnormal genitalia syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier 4
X-linked myotubular myopathy, abnormal genitalia syndrome Finding site Sex chromosome X true Inferred relationship Existential restriction modifier 4
X-linked myotubular myopathy, abnormal genitalia syndrome Associated morphology Partial deletion true Inferred relationship Existential restriction modifier 4
Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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