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721075001: Short tarsus with absence of lower eyelashes syndrome (disorder)


Status: current, Primitive. 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 Case insensitive SNOMED CT core
3323372019 Short tarsus with absence of lower eyelashes syndrome en Synonym Active Case insensitive SNOMED CT core
3323373012 Lopes Gorlin syndrome en Synonym Active Case sensitive SNOMED CT core
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 Case sensitive 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 Occurrence Congenital true Inferred relationship Some 1
Short tarsus with absence of lower eyelashes syndrome Pathological process Pathological developmental process true Inferred relationship Some 1
Short tarsus with absence of lower eyelashes syndrome Associated morphology Congenital absence false Inferred relationship Some 1
Short tarsus with absence of lower eyelashes syndrome Finding site Entire eyelashes true Inferred relationship Some 1
Short tarsus with absence of lower eyelashes syndrome Pathological process Pathological developmental process true Inferred relationship Some 2
Short tarsus with absence of lower eyelashes syndrome Is a Congenital alopecia false Inferred relationship Some
Short tarsus with absence of lower eyelashes syndrome Is a Partial ablepharon false Inferred relationship Some
Short tarsus with absence of lower eyelashes syndrome Is a Developmental hereditary disorder true Inferred relationship Some
Short tarsus with absence of lower eyelashes syndrome Associated morphology Absence true Inferred relationship Some 1
Short tarsus with absence of lower eyelashes syndrome Is a Autosomal dominant hereditary disorder true Inferred relationship Some
Short tarsus with absence of lower eyelashes syndrome Is a Longitudinal deficiency of tarsal bone true Inferred relationship Some
Short tarsus with absence of lower eyelashes syndrome Is a Congenital absence of eyelash true Inferred relationship Some
Short tarsus with absence of lower eyelashes syndrome Is a Multiple malformation syndrome with facial defects as major feature true Inferred relationship Some
Short tarsus with absence of lower eyelashes syndrome Is a Inherited disorder of connective tissue false Inferred relationship Some
Short tarsus with absence of lower eyelashes syndrome Is a Hereditary disorder of the integument true Inferred relationship Some
Short tarsus with absence of lower eyelashes syndrome Is a Hereditary disorder of musculoskeletal system true Inferred relationship Some
Short tarsus with absence of lower eyelashes syndrome Is a Hereditary disorder of the visual system true Inferred relationship Some
Short tarsus with absence of lower eyelashes syndrome Associated morphology Congenital absence false Inferred relationship Some 2
Short tarsus with absence of lower eyelashes syndrome Occurrence Congenital true Inferred relationship Some 2
Short tarsus with absence of lower eyelashes syndrome Finding site Entire eyelashes false Inferred relationship Some 2
Short tarsus with absence of lower eyelashes syndrome Associated morphology Abnormally short growth false Inferred relationship Some 3
Short tarsus with absence of lower eyelashes syndrome Occurrence Congenital false Inferred relationship Some 3
Short tarsus with absence of lower eyelashes syndrome Finding site Entire tarsal bone false Inferred relationship Some 3
Short tarsus with absence of lower eyelashes syndrome Associated morphology Abnormally short growth true Inferred relationship Some 2
Short tarsus with absence of lower eyelashes syndrome Finding site Entire tarsal bone true Inferred relationship Some 2

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

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