FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.10  |  FHIR Version n/a  User: [n/a]

1237623009: Congenital insensitivity to pain with severe intellectual disability (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Sep 2022. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
5100089011 Congenital analgesia with severe intellectual disability en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5100090019 Congenital absence of pain with severe intellectual disability en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5100091015 Congenital insensitivity to pain with severe intellectual disability (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5100092010 Congenital insensitivity to pain with severe intellectual disability en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5100093017 Congenital insensitivity to pain with preserved temperature sensation en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5100094011 Congenital insensitivity to pain with severe non-progressive cognitive delay en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5100098014 A rare autosomal recessive hereditary sensory and autonomic neuropathy characterised by the complete absence of pain perception from birth, an unresponsiveness to soft touch, severe non-progressive cognitive delay and normal motor movement/behaviour and strength. Affected cases retain hot and cold perception. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5100099018 A rare autosomal recessive hereditary sensory and autonomic neuropathy characterized by the complete absence of pain perception from birth, an unresponsiveness to soft touch, severe non-progressive cognitive delay and normal motor movement/behavior and strength. Affected cases retain hot and cold perception. 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
Congenital insensitivity to pain with severe intellectual disability (disorder) Is a Hereditary sensory and autonomic neuropathy true Inferred relationship Some
Congenital insensitivity to pain with severe intellectual disability (disorder) Is a Developmental hereditary disorder true Inferred relationship Some
Congenital insensitivity to pain with severe intellectual disability (disorder) Is a Severe intellectual disability (disorder) true Inferred relationship Some
Congenital insensitivity to pain with severe intellectual disability (disorder) Is a Congenital disease (disorder) true Inferred relationship Some
Congenital insensitivity to pain with severe intellectual disability (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Congenital insensitivity to pain with severe intellectual disability (disorder) Clinical course Non-progressive true Inferred relationship Some 6
Congenital insensitivity to pain with severe intellectual disability (disorder) Interprets Intellectual ability (observable entity) true Inferred relationship Some 4
Congenital insensitivity to pain with severe intellectual disability (disorder) Has interpretation Impaired true Inferred relationship Some 4
Congenital insensitivity to pain with severe intellectual disability (disorder) Interprets Adaptation behavior (observable entity) true Inferred relationship Some 5
Congenital insensitivity to pain with severe intellectual disability (disorder) Has interpretation Impaired true Inferred relationship Some 5
Congenital insensitivity to pain with severe intellectual disability (disorder) Occurrence Congenital true Inferred relationship Some 1
Congenital insensitivity to pain with severe intellectual disability (disorder) Finding site Nerve structure true Inferred relationship Some 1
Congenital insensitivity to pain with severe intellectual disability (disorder) Occurrence Congenital true Inferred relationship Some 2
Congenital insensitivity to pain with severe intellectual disability (disorder) Finding site Peripheral nervous system structure true Inferred relationship Some 2
Congenital insensitivity to pain with severe intellectual disability (disorder) Occurrence Congenital true Inferred relationship Some 3
Congenital insensitivity to pain with severe intellectual disability (disorder) Finding site Autonomic nervous system structure true Inferred relationship Some 3
Congenital insensitivity to pain with severe intellectual disability (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 7

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

Back to Start