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716099003: Absence deformity of leg and congenital cataract syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module Reference Sets
3304727011 Absence deformity of leg and congenital cataract syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
3304728018 Absence deformity of leg and congenital cataract syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
3304729014 A very rare syndromic limb malformation described in two distantly related boys. Its features are described as absence deformity of the left leg, progressive scoliosis, short stature, congenital cataract associated with dysplasia of the optic nerve. No intellectual deficit has been observed. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)

0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Absence deformity of leg and congenital cataract syndrome (disorder) Is a Multiple malformation syndrome with limb defect as major feature true Inferred relationship Some
Absence deformity of leg and congenital cataract syndrome (disorder) Is a Congenital cataract true Inferred relationship Some
Absence deformity of leg and congenital cataract syndrome (disorder) Is a Congenital anomaly of lower limb (disorder) true Inferred relationship Some
Absence deformity of leg and congenital cataract syndrome (disorder) Is a Congenital absence false Inferred relationship Some
Absence deformity of leg and congenital cataract syndrome (disorder) Associated morphology Congenital cataract false Inferred relationship Some 2
Absence deformity of leg and congenital cataract syndrome (disorder) Occurrence Congenital true Inferred relationship Some 2
Absence deformity of leg and congenital cataract syndrome (disorder) Finding site Lens clear false Inferred relationship Some 2
Absence deformity of leg and congenital cataract syndrome (disorder) Associated morphology Congenital absence (morphologic abnormality) false Inferred relationship Some 3
Absence deformity of leg and congenital cataract syndrome (disorder) Occurrence Congenital false Inferred relationship Some 3
Absence deformity of leg and congenital cataract syndrome (disorder) Finding site Lower limb structure (body structure) false Inferred relationship Some 3
Absence deformity of leg and congenital cataract syndrome (disorder) Finding site Lower limb structure (body structure) true Inferred relationship Some 2
Absence deformity of leg and congenital cataract syndrome (disorder) Is a Absence of lower limb (finding) true Inferred relationship Some
Absence deformity of leg and congenital cataract syndrome (disorder) Occurrence Congenital true Inferred relationship Some 1
Absence deformity of leg and congenital cataract syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Absence deformity of leg and congenital cataract syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Absence deformity of leg and congenital cataract syndrome (disorder) Finding site Lens clear true Inferred relationship Some 1
Absence deformity of leg and congenital cataract syndrome (disorder) Associated morphology Cataract (morphologic abnormality) false Inferred relationship Some 1
Absence deformity of leg and congenital cataract syndrome (disorder) Associated morphology Absence (morphologic abnormality) true Inferred relationship Some 2
Absence deformity of leg and congenital cataract syndrome (disorder) Associated morphology Opacity true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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