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722231005: Perlman syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2017. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module
3331272016 Perlman syndrome (disorder) en Fully specified name Active Entire term case sensitive SNOMED CT core module
3331273014 Perlman 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
Perlman syndrome Is a Congenital anomaly of the kidney false Inferred relationship Existential restriction modifier
Perlman syndrome Is a Multiple malformation syndrome with early overgrowth true Inferred relationship Existential restriction modifier
Perlman syndrome Is a Multiple malformation syndrome with facial defects as major feature true Inferred relationship Existential restriction modifier
Perlman syndrome Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier
Perlman syndrome Is a Renal mass true Inferred relationship Existential restriction modifier
Perlman syndrome Is a Congenital hamartoma true Inferred relationship Existential restriction modifier
Perlman syndrome Is a Hereditary cancer-predisposing syndrome true Inferred relationship Existential restriction modifier
Perlman syndrome Is a Hereditary nephropathy true Inferred relationship Existential restriction modifier
Perlman syndrome Associated morphology Hamartoma true Inferred relationship Existential restriction modifier 2
Perlman syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier 2
Perlman syndrome Finding site Kidney structure true Inferred relationship Existential restriction modifier 2
Perlman syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier 3
Perlman syndrome Associated morphology Developmental anomaly false Inferred relationship Existential restriction modifier 2
Perlman syndrome Finding site Face structure false Inferred relationship Existential restriction modifier 2
Perlman syndrome Associated morphology Hamartoma false Inferred relationship Existential restriction modifier 3
Perlman syndrome Finding site Kidney structure false Inferred relationship Existential restriction modifier 3
Perlman syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier 1
Perlman syndrome Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 1
Perlman syndrome Pathological process Pathological developmental process false Inferred relationship Existential restriction modifier 2
Perlman syndrome Finding site Face structure true Inferred relationship Existential restriction modifier 1
Perlman syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier 1
Perlman syndrome Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier
Perlman syndrome Is a Kidney lesion 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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