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

721075001: syndroom van korte tarsus en afwezigheid van onderste wimpers (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
3323371014 Short tarsus with absence of lower eyelashes syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3323372019 Short tarsus with absence of lower eyelashes syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3323373012 Lopes Gorlin syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
6375091000146113 syndroom van Lopes-Gorlin nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
7002291000146117 syndroom van korte tarsus en afwezigheid van onderste wimpers nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
7002301000146118 syndroom van korte tarsus en afwezigheid van onderste wimpers (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
7002311000146116 syndroom van korte voetwortel en afwezige onderste wimpers nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
3323374018 A very rare syndrome with the association of thin and short upper and lower tarsus and absence of the lower eyelashes. It has been described in 11 patients from a four-generation family. There is no other unusual feature. Inheritance is autosomal dominant. 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
Short tarsus with absence of lower eyelashes syndrome (disorder) Is a Autosomal dominant hereditary disorder true Inferred relationship Some
Short tarsus with absence of lower eyelashes syndrome (disorder) Is a Longitudinal deficiency of tarsal bone true Inferred relationship Some
Short tarsus with absence of lower eyelashes syndrome (disorder) Is a Congenital absence of eyelash true Inferred relationship Some
Short tarsus with absence of lower eyelashes syndrome (disorder) Is a Multiple malformation syndrome with facial defects as major feature true Inferred relationship Some
Short tarsus with absence of lower eyelashes syndrome (disorder) Is a Connective tissue hereditary disorder (disorder) false Inferred relationship Some
Short tarsus with absence of lower eyelashes syndrome (disorder) Is a Hereditary disorder of the integument true Inferred relationship Some
Short tarsus with absence of lower eyelashes syndrome (disorder) Is a Hereditary disorder of musculoskeletal system true Inferred relationship Some
Short tarsus with absence of lower eyelashes syndrome (disorder) Is a Hereditary disorder of the visual system (disorder) true Inferred relationship Some
Short tarsus with absence of lower eyelashes syndrome (disorder) Associated morphology Congenital absence (morphologic abnormality) false Inferred relationship Some 2
Short tarsus with absence of lower eyelashes syndrome (disorder) Occurrence Congenital true Inferred relationship Some 2
Short tarsus with absence of lower eyelashes syndrome (disorder) Finding site Entire eyelashes false Inferred relationship Some 2
Short tarsus with absence of lower eyelashes syndrome (disorder) Associated morphology Abnormally short growth false Inferred relationship Some 3
Short tarsus with absence of lower eyelashes syndrome (disorder) Occurrence Congenital false Inferred relationship Some 3
Short tarsus with absence of lower eyelashes syndrome (disorder) Finding site Entire tarsal bone false Inferred relationship Some 3
Short tarsus with absence of lower eyelashes syndrome (disorder) Associated morphology Abnormally short growth true Inferred relationship Some 2
Short tarsus with absence of lower eyelashes syndrome (disorder) Finding site Entire tarsal bone true Inferred relationship Some 2
Short tarsus with absence of lower eyelashes syndrome (disorder) Occurrence Congenital true Inferred relationship Some 1
Short tarsus with absence of lower eyelashes syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Short tarsus with absence of lower eyelashes syndrome (disorder) Associated morphology Congenital absence (morphologic abnormality) false Inferred relationship Some 1
Short tarsus with absence of lower eyelashes syndrome (disorder) Finding site Entire eyelashes true Inferred relationship Some 1
Short tarsus with absence of lower eyelashes syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Short tarsus with absence of lower eyelashes syndrome (disorder) Is a Congenital alopecia false Inferred relationship Some
Short tarsus with absence of lower eyelashes syndrome (disorder) Is a Partial ablepharon false Inferred relationship Some
Short tarsus with absence of lower eyelashes syndrome (disorder) Is a Developmental hereditary disorder true Inferred relationship Some
Short tarsus with absence of lower eyelashes syndrome (disorder) Associated morphology Absence (morphologic abnormality) true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

Back to Start