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766765009: radiorenaal syndroom (aandoening)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3662547018 Radio-renal syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3662548011 Radio-renal syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
6106501000146115 radiorenaal syndroom nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6106511000146118 radiorenaal syndroom (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
3662549015 A rare developmental defect during embryogenesis with characteristics of variable upper limb reduction defects and renal anomalies. Patients typically present absence/hypoplasia of digits, radii and/or ulnae, short stature and mild external ear malformation, as well as kidney agenesis or ectopia. There have been no further descriptions in the literature since 1983. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Radio-renal syndrome (disorder) Is a Autosomal dominant hereditary disorder true Inferred relationship Some
Radio-renal syndrome (disorder) Occurrence Congenital true Inferred relationship Some 1
Radio-renal syndrome (disorder) Is a Longitudinal deficiency of limb true Inferred relationship Some
Radio-renal syndrome (disorder) Is a Congenital anomaly of the kidney true Inferred relationship Some
Radio-renal syndrome (disorder) Is a Multiple malformation syndrome with limb defect as major feature true Inferred relationship Some
Radio-renal syndrome (disorder) Is a Hereditary nephropathy (disorder) true Inferred relationship Some
Radio-renal syndrome (disorder) Occurrence Congenital true Inferred relationship Some 2
Radio-renal syndrome (disorder) Finding site Entire limb true Inferred relationship Some 1
Radio-renal syndrome (disorder) Associated morphology Abnormal shortening true Inferred relationship Some 1
Radio-renal syndrome (disorder) Associated morphology gebrekkige ontwikkeling (afwijkende morfologie) false Inferred relationship Some 2
Radio-renal syndrome (disorder) Finding site Kidney structure true Inferred relationship Some 2
Radio-renal syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Radio-renal syndrome (disorder) Is a Congenital anomaly of limb false Inferred relationship Some
Radio-renal syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Radio-renal syndrome (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 2
Radio-renal syndrome (disorder) Is a Congenital deformity false Inferred relationship Some
Radio-renal syndrome (disorder) Is a Developmental hereditary disorder true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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