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775909002: Congenital neutropenia, myelofibrosis, nephromegaly syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2019. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module
3736324010 Congenital neutropenia, myelofibrosis, nephromegaly syndrome (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module
3736325011 Congenital neutropenia, bone marrow fibrosis, nephromegaly syndrome en Synonym Active Entire term case insensitive SNOMED CT core module
3736326012 VPS45 deficiency en Synonym Active Entire term case sensitive SNOMED CT core module
3736327015 Congenital neutropenia, myelofibrosis, nephromegaly 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
Congenital neutropenia, myelofibrosis, nephromegaly syndrome Is a Congenital enlarged kidney true Inferred relationship Existential restriction modifier
Congenital neutropenia, myelofibrosis, nephromegaly syndrome Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier
Congenital neutropenia, myelofibrosis, nephromegaly syndrome Associated morphology Reticulin fibrosis true Inferred relationship Existential restriction modifier 2
Congenital neutropenia, myelofibrosis, nephromegaly syndrome Is a Congenital neutropenia true Inferred relationship Existential restriction modifier
Congenital neutropenia, myelofibrosis, nephromegaly syndrome Is a Hereditary white blood cell disorder true Inferred relationship Existential restriction modifier
Congenital neutropenia, myelofibrosis, nephromegaly syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier 2
Congenital neutropenia, myelofibrosis, nephromegaly syndrome Finding site Entire kidney true Inferred relationship Existential restriction modifier 3
Congenital neutropenia, myelofibrosis, nephromegaly syndrome Finding site Bone marrow structure true Inferred relationship Existential restriction modifier 2
Congenital neutropenia, myelofibrosis, nephromegaly syndrome Is a Myelofibrosis true Inferred relationship Existential restriction modifier
Congenital neutropenia, myelofibrosis, nephromegaly syndrome Is a Abdominal organomegaly true Inferred relationship Existential restriction modifier
Congenital neutropenia, myelofibrosis, nephromegaly syndrome Interprets Neutrophil count true Inferred relationship Existential restriction modifier 1
Congenital neutropenia, myelofibrosis, nephromegaly syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier 3
Congenital neutropenia, myelofibrosis, nephromegaly syndrome Has interpretation Below reference range true Inferred relationship Existential restriction modifier 1
Congenital neutropenia, myelofibrosis, nephromegaly syndrome Associated morphology Congenital enlargement false Inferred relationship Existential restriction modifier 3
Congenital neutropenia, myelofibrosis, nephromegaly syndrome Is a Hereditary nephropathy true Inferred relationship Existential restriction modifier
Congenital neutropenia, myelofibrosis, nephromegaly syndrome Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 3
Congenital neutropenia, myelofibrosis, nephromegaly syndrome Pathological process Abnormal immune process true Inferred relationship Existential restriction modifier 4
Congenital neutropenia, myelofibrosis, nephromegaly syndrome Associated morphology Enlargement true Inferred relationship Existential restriction modifier 3
Congenital neutropenia, myelofibrosis, nephromegaly syndrome Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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