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722280000: Ackerman syndrome (disorder)


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
3331413017 Ackerman syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
3331414011 Ackerman syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402866010 A rare multiple congenital anomalies/dysmorphic syndrome characterized by a variable combination of dental, cutaneous, ocular, and bone abnormalities, including pyramidal and fused molar roots, taurodontism, an abnormal upper lip without a cupid's bow and thickened and wide philtrum, juvenile glaucoma, syndactyly, and clinodactyly. There have been no further descriptions in the literature since 1973. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402867018 A rare multiple congenital anomalies/dysmorphic syndrome characterised by a variable combination of dental, cutaneous, ocular, and bone abnormalities, including pyramidal and fused molar roots, taurodontism, an abnormal upper lip without a cupid's bow and thickened and wide philtrum, juvenile glaucoma, syndactyly, and clinodactyly. There have been no further descriptions in the literature since 1973. 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
Ackerman syndrome (disorder) Is a Ectodermal dysplasia true Inferred relationship Some
Ackerman syndrome (disorder) Is a Multiple system malformation syndrome true Inferred relationship Some
Ackerman syndrome (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Ackerman syndrome (disorder) Is a Digestive system hereditary disorder (disorder) false Inferred relationship Some
Ackerman syndrome (disorder) Is a Hereditary disorder of the integument true Inferred relationship Some
Ackerman syndrome (disorder) Is a Congenital anomaly of tooth (disorder) true Inferred relationship Some
Ackerman syndrome (disorder) Occurrence Congenital true Inferred relationship Some 3
Ackerman syndrome (disorder) Associated morphology Developmental anomaly false Inferred relationship Some 4
Ackerman syndrome (disorder) Occurrence Congenital false Inferred relationship Some 4
Ackerman syndrome (disorder) Finding site Skin structure false Inferred relationship Some 4
Ackerman syndrome (disorder) Occurrence Congenital false Inferred relationship Some 5
Ackerman syndrome (disorder) Associated morphology Developmental anomaly false Inferred relationship Some 5
Ackerman syndrome (disorder) Associated morphology Congenital dysplasia false Inferred relationship Some 3
Ackerman syndrome (disorder) Finding site Ectoderm structure false Inferred relationship Some 3
Ackerman syndrome (disorder) Finding site Skin structure true Inferred relationship Some 3
Ackerman syndrome (disorder) Finding site Tooth structure false Inferred relationship Some 5
Ackerman syndrome (disorder) Occurrence Congenital true Inferred relationship Some 2
Ackerman syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Ackerman syndrome (disorder) Occurrence Congenital true Inferred relationship Some 1
Ackerman syndrome (disorder) Finding site Ectoderm structure true Inferred relationship Some 2
Ackerman syndrome (disorder) Associated morphology Congenital dysplasia false Inferred relationship Some 2
Ackerman syndrome (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 3
Ackerman syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Ackerman syndrome (disorder) Finding site Tooth structure true Inferred relationship Some 1
Ackerman syndrome (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 1
Ackerman syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Ackerman syndrome (disorder) Associated morphology Dysplasia true Inferred relationship Some 2
Ackerman syndrome (disorder) Is a Developmental hereditary disorder true Inferred relationship Some
Ackerman syndrome (disorder) Is a Hereditary disorder of tooth true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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