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722035007: syndroom van verstandelijke beperking, enteropathie, doofheid, perifere neuropathie, ichtyose en keratoderma (aandoening)


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

Descriptions:

Id Description Lang Type Status Case? Module
3325363012 Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3330261017 Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3330262012 MEDNIK syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3330263019 MEDNIK (mental retardation, enteropathy, deafness, peripheral neuropathy, ichtyosis, keratodermia) syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3330264013 Erythrokeratodermia variabilis 3 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3330265014 Erythrokeratodermia variabilis Kamouraska type en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
6771431000146116 syndroom van mentale retardatie, enteropathie, doofheid, perifere neuropathie, ichtyose en keratoderma nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6771461000146113 erythrokeratodermia variabilis type 3 nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6942241000146114 MEDNIK-syndroom nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6942251000146112 erythrokeratodermia variabilis type Kamouraska nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
7495881000146117 syndroom van verstandelijke beperking, enteropathie, doofheid, perifere neuropathie, ichtyose en keratoderma (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
7718971000146114 syndroom van verstandelijke beperking, enteropathie, doofheid, perifere neuropathie, ichtyose en keratoderma nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
7860391000146113 syndroom van verstandelijke handicap, enteropathie, doofheid, perifere neuropathie, ichtyose en keratoderma nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
3325371011 MEDNIK syndrome, previously known as Erythrokeratodermia Variabilis type 3 (EKV3), has characteristics of intellectual deficit, enteropathy, sensorineural hearing loss, peripheral neuropathy, lamellar and erythrodermic ichthyosis and keratodermia. The syndrome has been described in four families descending from limited number of ancestors in Quebec. The disease is due to a mutation in the AP1S1 gene encoding the small subunit sigma1A of the AP-1 complex. 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
Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome (disorder) Is a mentale retardatie false Inferred relationship Some
Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome (disorder) Is a Hearing loss associated with syndrome true Inferred relationship Some
Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome (disorder) Is a Erythrokeratoderma false Inferred relationship Some
Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome (disorder) Is a Auditory system hereditary disorder true Inferred relationship Some
Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome (disorder) Is a Autosomal recessive ichthyosis (disorder) true Inferred relationship Some
Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome (disorder) Finding site Ear structure false Inferred relationship Some 3
Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome (disorder) Has definitional manifestation Abnormal keratinization false Inferred relationship Some
Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome (disorder) Occurrence Congenital false Inferred relationship Some 4
Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome (disorder) Finding site Skin structure false Inferred relationship Some 4
Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome (disorder) Occurrence Congenital false Inferred relationship Some 5
Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome (disorder) Finding site Skin structure false Inferred relationship Some 5
Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome (disorder) Associated morphology gebrekkige ontwikkeling (afwijkende morfologie) false Inferred relationship Some 4
Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome (disorder) Associated morphology Hyperkeratosis false Inferred relationship Some 5
Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome (disorder) Is a Intellectual disability true Inferred relationship Some
Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome (disorder) Interprets Keratinization true Inferred relationship Some 2
Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome (disorder) Has interpretation Abnormal true Inferred relationship Some 2
Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome (disorder) Associated morphology Hyperkeratosis true Inferred relationship Some 1
Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome (disorder) Occurrence Congenital true Inferred relationship Some 1
Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome (disorder) Finding site Skin structure false Inferred relationship Some 1
Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome (disorder) Finding site Entire skin true Inferred relationship Some 1
Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome (disorder) Interprets Hearing true Inferred relationship Some 3
Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome (disorder) Finding site Structure of auditory system (body structure) true Inferred relationship Some 4
Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome (disorder) Is a Congenital hearing disorder false Inferred relationship Some
Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome (disorder) Is a Erythrokeratodermia variabilis false Inferred relationship Some
Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome (disorder) Is a Congenital keratoderma true Inferred relationship Some
Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome (disorder) Is a Sensorineural hearing loss true Inferred relationship Some
Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome (disorder) Has interpretation Impaired true Inferred relationship Some 3
Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome (disorder) Interprets Intellectual ability (observable entity) true Inferred relationship Some 5
Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome (disorder) Has interpretation Impaired true Inferred relationship Some 5
Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome (disorder) Interprets Adaptation behavior (observable entity) true Inferred relationship Some 6
Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome (disorder) Has interpretation Impaired true Inferred relationship Some 6
Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome (disorder) Is a Hyperplasia of skin (disorder) false Inferred relationship Some
Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome (disorder) Is a Congenital hearing loss (disorder) false Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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