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722284009: Hypoplasia and coloboma of alar cartilage with telecanthus syndrome (disorder)


Status: current, Primitive. Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3331431016 Hypoplasia and coloboma of alar cartilage with telecanthus syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core
3331432011 Hypoplasia and coloboma of alar cartilage with telecanthus syndrome en Synonym Active Case insensitive SNOMED CT core
3331433018 Alar cartilage hypoplasia, coloboma, telecanthus syndrome en Synonym Active Case insensitive SNOMED CT core
3331434012 A very rare dysmorphic disorder with characteristics of hypoplasia and coloboma of the alar cartilages and telecanthus described in 2 sisters. No new cases with similar features have been reported since 1976. en Definition Active Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Hypoplasia and coloboma of alar cartilage with telecanthus syndrome Pathological process Pathological developmental process true Inferred relationship Some 2
Hypoplasia and coloboma of alar cartilage with telecanthus syndrome Pathological process Pathological developmental process true Inferred relationship Some 1
Hypoplasia and coloboma of alar cartilage with telecanthus syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Some 2
Hypoplasia and coloboma of alar cartilage with telecanthus syndrome Occurrence Congenital true Inferred relationship Some 2
Hypoplasia and coloboma of alar cartilage with telecanthus syndrome Finding site Structure of palpebral fissure true Inferred relationship Some 2
Hypoplasia and coloboma of alar cartilage with telecanthus syndrome Pathological process Pathological developmental process true Inferred relationship Some 3
Hypoplasia and coloboma of alar cartilage with telecanthus syndrome Associated morphology Hypoplasia true Inferred relationship Some 1
Hypoplasia and coloboma of alar cartilage with telecanthus syndrome Associated morphology Developmental failure of fusion true Inferred relationship Some 3
Hypoplasia and coloboma of alar cartilage with telecanthus syndrome Is a Congenital cleft nose true Inferred relationship Some
Hypoplasia and coloboma of alar cartilage with telecanthus syndrome Is a Developmental hereditary disorder true Inferred relationship Some
Hypoplasia and coloboma of alar cartilage with telecanthus syndrome Is a Multiple malformation syndrome with facial defects as major feature true Inferred relationship Some
Hypoplasia and coloboma of alar cartilage with telecanthus syndrome Is a Congenital anomaly of cartilage true Inferred relationship Some
Hypoplasia and coloboma of alar cartilage with telecanthus syndrome Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Hypoplasia and coloboma of alar cartilage with telecanthus syndrome Is a Congenital anomaly of eyelid true Inferred relationship Some
Hypoplasia and coloboma of alar cartilage with telecanthus syndrome Is a Congenital hypoplasia of nose true Inferred relationship Some
Hypoplasia and coloboma of alar cartilage with telecanthus syndrome Is a Telecanthus true Inferred relationship Some
Hypoplasia and coloboma of alar cartilage with telecanthus syndrome Is a Disorder of soft tissue of head true Inferred relationship Some
Hypoplasia and coloboma of alar cartilage with telecanthus syndrome Is a Inherited disorder of connective tissue true Inferred relationship Some
Hypoplasia and coloboma of alar cartilage with telecanthus syndrome Is a Hereditary disorder of musculoskeletal system true Inferred relationship Some
Hypoplasia and coloboma of alar cartilage with telecanthus syndrome Is a Hereditary disorder of the visual system true Inferred relationship Some
Hypoplasia and coloboma of alar cartilage with telecanthus syndrome Occurrence Congenital true Inferred relationship Some 3
Hypoplasia and coloboma of alar cartilage with telecanthus syndrome Occurrence Congenital false Inferred relationship Some 4
Hypoplasia and coloboma of alar cartilage with telecanthus syndrome Associated morphology Congenital failure of fusion false Inferred relationship Some 5
Hypoplasia and coloboma of alar cartilage with telecanthus syndrome Occurrence Congenital false Inferred relationship Some 5
Hypoplasia and coloboma of alar cartilage with telecanthus syndrome Finding site Alar cartilage structure false Inferred relationship Some 5
Hypoplasia and coloboma of alar cartilage with telecanthus syndrome Associated morphology Hypoplasia false Inferred relationship Some 3
Hypoplasia and coloboma of alar cartilage with telecanthus syndrome Finding site Alar cartilage structure true Inferred relationship Some 3
Hypoplasia and coloboma of alar cartilage with telecanthus syndrome Associated morphology Developmental abnormality false Inferred relationship Some 4
Hypoplasia and coloboma of alar cartilage with telecanthus syndrome Finding site Structure of palpebral fissure false Inferred relationship Some 4
Hypoplasia and coloboma of alar cartilage with telecanthus syndrome Associated morphology Developmental failure of fusion false Inferred relationship Some 1
Hypoplasia and coloboma of alar cartilage with telecanthus syndrome Occurrence Congenital true Inferred relationship Some 1
Hypoplasia and coloboma of alar cartilage with telecanthus syndrome Finding site Alar cartilage structure true Inferred relationship Some 1
Hypoplasia and coloboma of alar cartilage with telecanthus syndrome Is a Lesion of nose false Inferred relationship Some
Hypoplasia and coloboma of alar cartilage with telecanthus syndrome Is a Soft tissue lesion true Inferred relationship Some

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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