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

1172685001: Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Sep 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
4635272012 Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4635273019 Macrothrombocytopenia, lymphoedema, developmental delay, facial dysmorphism, camptodactyly syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4635274013 Takenouchi Kosaki syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
4635275014 Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4635276010 A rare multiple congenital anomalies/dysmorphic syndrome with intellectual disability characterised by global developmental delay, intellectual disability, macrothrombocytopenia, lymphoedema, and dysmorphic facial features (for example synophrys, ptosis, eversion of the lateral portion of the lower eyelid, thin upper lip). Additional reported manifestations include cardiac and genitourinary anomalies, sensorineural hearing loss, ophthalmologic abnormalities, skeletal anomalies and immunodeficiency. Brain imaging may show enlarged ventricles, cerebellar atrophy or white matter changes. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
4635277018 A rare multiple congenital anomalies/dysmorphic syndrome with intellectual disability characterized by global developmental delay, intellectual disability, macrothrombocytopenia, lymphedema, and dysmorphic facial features (for example synophrys, ptosis, eversion of the lateral portion of the lower eyelid, thin upper lip). Additional reported manifestations include cardiac and genitourinary anomalies, sensorineural hearing loss, ophthalmologic abnormalities, skeletal anomalies and immunodeficiency. Brain imaging may show enlarged ventricles, cerebellar atrophy or white matter changes. 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
Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome est un(e) (attribut) Intellectual disability true Inferred relationship Some
Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome est un(e) (attribut) Global developmental delay true Inferred relationship Some
Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome est un(e) (attribut) Multiple malformation syndrome with facial-limb defects as major feature true Inferred relationship Some
Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome est un(e) (attribut) Megakaryocytic thrombocytopenia true Inferred relationship Some
Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome est un(e) (attribut) lymphœdème héréditaire true Inferred relationship Some
Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome est un(e) (attribut) Hereditary thrombocytopenic disorder (disorder) true Inferred relationship Some
Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome est un(e) (attribut) Congenital thrombocytopenia (disorder) true Inferred relationship Some
Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome morphologie associée (attribut) Lymphatic oedema false Inferred relationship Some 5
Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome interprète (attribut) Hemostatic function (observable entity) true Inferred relationship Some 3
Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome a pour interprétation (attribut) anormal true Inferred relationship Some 3
Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome interprète (attribut) Platelet count true Inferred relationship Some 4
Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome a pour interprétation (attribut) au-dessous de l'étendue de référence true Inferred relationship Some 4
Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome survenue (attribut) congénital true Inferred relationship Some 1
Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome localisation d'une constatation (attribut) face true Inferred relationship Some 1
Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome morphologie associée (attribut) structure anormale sur le plan morphologique true Inferred relationship Some 1
Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome survenue (attribut) congénital true Inferred relationship Some 2
Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome est un(e) (attribut) Autosomal dominant hereditary disorder true Inferred relationship Some
Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome est un(e) (attribut) Developmental hereditary disorder false Inferred relationship Some
Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome localisation d'une constatation (attribut) structure d'un système corporel true Inferred relationship Some 6
Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome localisation d'une constatation (attribut) structure d'un membre true Inferred relationship Some 2
Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome morphologie associée (attribut) structure anormale sur le plan morphologique false Inferred relationship Some 2
Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome morphologie associée (attribut) Lymphatic oedema true Inferred relationship Some 2

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

Back to Start