FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.24  |  FHIR Version n/a  User: [n/a]

76880004: Angelman syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
1234038018 Angelman's syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
127638013 Angelman syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
127639017 Happy puppet syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
466581000241111 syndrome d'Angelman (trouble) fr Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
817648018 Angelman syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
868771000172117 syndrome d'Angelman fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)


1 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Angelman syndrome morphologie associée (attribut) structure anormale sur le plan morphologique true Inferred relationship Some 2
Angelman syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Angelman syndrome morphologie associée (attribut) structure anormale sur le plan morphologique true Inferred relationship Some 1
Angelman syndrome localisation d'une constatation (attribut) face true Inferred relationship Some 1
Angelman syndrome est un(e) (attribut) Genetic disease true Inferred relationship Some
Angelman syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Angelman syndrome survenue (attribut) congénital true Inferred relationship Some 1
Angelman syndrome est un(e) (attribut) Multiple malformation syndrome with facial defects as major feature true Inferred relationship Some
Angelman syndrome est un(e) (attribut) Intellectual disability true Inferred relationship Some
Angelman syndrome morphologie associée (attribut) Congenital malformation false Inferred relationship Some
Angelman syndrome morphologie associée (attribut) Congenital anomaly false Inferred relationship Some 1
Angelman syndrome est un(e) (attribut) Multiple malformation syndrome with unusual brain and/or neuromuscular findings false Inferred relationship Some
Angelman syndrome est un(e) (attribut) Anomaly of chromosome pair 15 false Inferred relationship Some
Angelman syndrome est un(e) (attribut) Congenital anomaly of nervous system false Inferred relationship Some
Angelman syndrome est un(e) (attribut) Congenital anomaly of nervous system true Inferred relationship Some
Angelman syndrome localisation d'une constatation (attribut) système nerveux false Inferred relationship Some 1
Angelman syndrome morphologie associée (attribut) Congenital anomaly false Inferred relationship Some 1
Angelman syndrome morphologie associée (attribut) Congenital anomaly false Inferred relationship Some 2
Angelman syndrome morphologie associée (attribut) Congenital anomaly false Inferred relationship Some 2
Angelman syndrome morphologie associée (attribut) Congenital anomaly false Inferred relationship Some 1
Angelman syndrome morphologie associée (attribut) Congenital anomaly false Inferred relationship Some 2
Angelman syndrome morphologie associée (attribut) Congenital anomaly false Inferred relationship Some 1
Angelman syndrome morphologie associée (attribut) Congenital anomaly false Inferred relationship Some 1
Angelman syndrome morphologie associée (attribut) Congenital anomaly false Inferred relationship Some 1
Angelman syndrome morphologie associée (attribut) Congenital anomaly false Inferred relationship Some 1
Angelman syndrome localisation d'une constatation (attribut) système nerveux false Inferred relationship Some 1
Angelman syndrome survenue (attribut) congénital true Inferred relationship Some 2
Angelman syndrome morphologie associée (attribut) Developmental abnormality false Inferred relationship Some 2
Angelman syndrome localisation d'une constatation (attribut) système nerveux true Inferred relationship Some 2
Angelman syndrome survenue (attribut) congénital false Inferred relationship Some 3
Angelman syndrome localisation d'une constatation (attribut) Chromosome pair 15 false Inferred relationship Some 3
Angelman syndrome morphologie associée (attribut) Cellular AND/OR subcellular abnormality false Inferred relationship Some 3
Angelman syndrome morphologie associée (attribut) Alteration of chromosome structure false Inferred relationship Some
Angelman syndrome localisation d'une constatation (attribut) Sex chromosome (cell structure) false Inferred relationship Some
Angelman syndrome survenue (attribut) congénital false Inferred relationship Some
Angelman syndrome localisation d'une constatation (attribut) structure de l'encéphale false Inferred relationship Some 2
Angelman syndrome localisation d'une constatation (attribut) Chromosome pair 15 false Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group
Angelman syndrome due to maternal monosomy 15q11q13 (disorder) est un(e) (attribut) True Angelman syndrome Inferred relationship Some

Reference Sets

Client's clinical problems, conditions, diagnoses, symptoms, findings, complaints reference set (foundation metadata concept)

Most commonly used clinical problems, conditions, diagnoses, symptoms, findings and complaints, as interpreted by the provider reference set (foundation metadata concept)

Back to Start