FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.21  |  FHIR Version n/a  User: [n/a]

723365002: Hypotrichosis and intellectual disability syndrome Lopes type (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
3424253010 Hypotrichosis and intellectual disability syndrome Lopes type (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3424254016 Hypotrichosis and intellectual disability syndrome Lopes type en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3424255015 Lopes Marques de Faria syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3424256019 Syndrome with characteristics of hypotrichosis, syndactyly, intellectual deficit and early eruption of teeth. It has been described in two patients. The mode of transmission appears to be 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
Hypotrichosis and intellectual disability syndrome Lopes type (disorder) survenue (attribut) congénital true Inferred relationship Some 1
Hypotrichosis and intellectual disability syndrome Lopes type (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Hypotrichosis and intellectual disability syndrome Lopes type (disorder) survenue (attribut) congénital true Inferred relationship Some 2
Hypotrichosis and intellectual disability syndrome Lopes type (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Hypotrichosis and intellectual disability syndrome Lopes type (disorder) morphologie associée (attribut) Congenital abnormal fusion true Inferred relationship Some 2
Hypotrichosis and intellectual disability syndrome Lopes type (disorder) localisation d'une constatation (attribut) Hair structure (body structure) true Inferred relationship Some 1
Hypotrichosis and intellectual disability syndrome Lopes type (disorder) localisation d'une constatation (attribut) Digit structure true Inferred relationship Some 2
Hypotrichosis and intellectual disability syndrome Lopes type (disorder) morphologie associée (attribut) Hypoplasia (morphologic abnormality) true Inferred relationship Some 1
Hypotrichosis and intellectual disability syndrome Lopes type (disorder) est un(e) (attribut) Developmental hereditary disorder true Inferred relationship Some
Hypotrichosis and intellectual disability syndrome Lopes type (disorder) est un(e) (attribut) Congenital hypotrichia (disorder) true Inferred relationship Some
Hypotrichosis and intellectual disability syndrome Lopes type (disorder) est un(e) (attribut) Autosomal recessive hereditary disorder true Inferred relationship Some
Hypotrichosis and intellectual disability syndrome Lopes type (disorder) est un(e) (attribut) Mental retardation false Inferred relationship Some
Hypotrichosis and intellectual disability syndrome Lopes type (disorder) est un(e) (attribut) Hereditary disorder of the integument true Inferred relationship Some
Hypotrichosis and intellectual disability syndrome Lopes type (disorder) est un(e) (attribut) Syndactyly (disorder) true Inferred relationship Some
Hypotrichosis and intellectual disability syndrome Lopes type (disorder) localisation d'une constatation (attribut) structure de la peau false Inferred relationship Some
Hypotrichosis and intellectual disability syndrome Lopes type (disorder) morphologie associée (attribut) Congenital abnormal fusion false Inferred relationship Some 3
Hypotrichosis and intellectual disability syndrome Lopes type (disorder) survenue (attribut) congénital false Inferred relationship Some 3
Hypotrichosis and intellectual disability syndrome Lopes type (disorder) localisation d'une constatation (attribut) Digit structure false Inferred relationship Some 3
Hypotrichosis and intellectual disability syndrome Lopes type (disorder) morphologie associée (attribut) Congenital hypoplasia false Inferred relationship Some 4
Hypotrichosis and intellectual disability syndrome Lopes type (disorder) survenue (attribut) congénital false Inferred relationship Some 4
Hypotrichosis and intellectual disability syndrome Lopes type (disorder) localisation d'une constatation (attribut) Hair structure (body structure) false Inferred relationship Some 4
Hypotrichosis and intellectual disability syndrome Lopes type (disorder) est un(e) (attribut) Intellectual disability true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

Back to Start