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733097003: Ichthyosis, intellectual disability, dwarfism, renal impairment syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3498747011 Ichthyosis, intellectual disability, dwarfism, renal impairment syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3498748018 Passwell Goodman Siprkowski syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3498749014 Ichthyosis, intellectual disability, dwarfism, renal impairment syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5403744017 Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome is characterized by nonbullous congenital ichthyosis, intellectual deficit, dwarfism and renal impairment. It has been described in four members of one Iranian family. Transmission is autosomal recessive. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403745016 Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome is characterised by nonbullous congenital ichthyosis, intellectual deficit, dwarfism and renal impairment. It has been described in four members of one Iranian family. Transmission is autosomal recessive. 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
Ichthyosis, intellectual disability, dwarfism, renal impairment syndrome (disorder) Is a Multiple system malformation syndrome true Inferred relationship Some
Ichthyosis, intellectual disability, dwarfism, renal impairment syndrome (disorder) Is a Mental retardation false Inferred relationship Some
Ichthyosis, intellectual disability, dwarfism, renal impairment syndrome (disorder) Is a Renal impairment true Inferred relationship Some
Ichthyosis, intellectual disability, dwarfism, renal impairment syndrome (disorder) Is a Short stature disorder true Inferred relationship Some
Ichthyosis, intellectual disability, dwarfism, renal impairment syndrome (disorder) Is a Autosomal recessive ichthyosis (disorder) true Inferred relationship Some
Ichthyosis, intellectual disability, dwarfism, renal impairment syndrome (disorder) Is a Hereditary nephropathy (disorder) true Inferred relationship Some
Ichthyosis, intellectual disability, dwarfism, renal impairment syndrome (disorder) Occurrence Congenital true Inferred relationship Some 2
Ichthyosis, intellectual disability, dwarfism, renal impairment syndrome (disorder) Finding site Skin structure false Inferred relationship Some 2
Ichthyosis, intellectual disability, dwarfism, renal impairment syndrome (disorder) Occurrence Congenital false Inferred relationship Some 3
Ichthyosis, intellectual disability, dwarfism, renal impairment syndrome (disorder) Finding site Kidney structure false Inferred relationship Some 2
Ichthyosis, intellectual disability, dwarfism, renal impairment syndrome (disorder) Associated morphology Developmental anomaly false Inferred relationship Some 3
Ichthyosis, intellectual disability, dwarfism, renal impairment syndrome (disorder) Finding site Skin structure false Inferred relationship Some 3
Ichthyosis, intellectual disability, dwarfism, renal impairment syndrome (disorder) Is a Intellectual disability true Inferred relationship Some
Ichthyosis, intellectual disability, dwarfism, renal impairment syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Ichthyosis, intellectual disability, dwarfism, renal impairment syndrome (disorder) Has interpretation Impaired true Inferred relationship Some 3
Ichthyosis, intellectual disability, dwarfism, renal impairment syndrome (disorder) Interprets Measurement of renal function false Inferred relationship Some 3
Ichthyosis, intellectual disability, dwarfism, renal impairment syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Ichthyosis, intellectual disability, dwarfism, renal impairment syndrome (disorder) Occurrence Congenital true Inferred relationship Some 1
Ichthyosis, intellectual disability, dwarfism, renal impairment syndrome (disorder) Finding site Kidney structure true Inferred relationship Some 1
Ichthyosis, intellectual disability, dwarfism, renal impairment syndrome (disorder) Associated morphology Hyperkeratosis true Inferred relationship Some 2
Ichthyosis, intellectual disability, dwarfism, renal impairment syndrome (disorder) Interprets Keratinization true Inferred relationship Some 4
Ichthyosis, intellectual disability, dwarfism, renal impairment syndrome (disorder) Has interpretation Abnormal true Inferred relationship Some 4
Ichthyosis, intellectual disability, dwarfism, renal impairment syndrome (disorder) Is a Functional finding false Inferred relationship Some
Ichthyosis, intellectual disability, dwarfism, renal impairment syndrome (disorder) Finding site Entire skin true Inferred relationship Some 2
Ichthyosis, intellectual disability, dwarfism, renal impairment syndrome (disorder) Interprets Height / growth measure true Inferred relationship Some 5
Ichthyosis, intellectual disability, dwarfism, renal impairment syndrome (disorder) Interprets Intellectual ability (observable entity) true Inferred relationship Some 6
Ichthyosis, intellectual disability, dwarfism, renal impairment syndrome (disorder) Has interpretation Impaired true Inferred relationship Some 6
Ichthyosis, intellectual disability, dwarfism, renal impairment syndrome (disorder) Interprets Adaptation behavior (observable entity) true Inferred relationship Some 7
Ichthyosis, intellectual disability, dwarfism, renal impairment syndrome (disorder) Has interpretation Impaired true Inferred relationship Some 7
Ichthyosis, intellectual disability, dwarfism, renal impairment syndrome (disorder) Interprets Renal function true Inferred relationship Some 3

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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