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722280000: syndroom van piramidale molaren en abnormale bovenlip (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
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
6000041000146116 piramidale molaren-abnormale bovenlip-syndroom nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6721391000146110 syndroom van piramidale molaren en abnormale bovenlip nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6721401000146113 syndroom van piramidale molaren en abnormale bovenlip (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6968661000146118 Ackerman-gefuseerde-kieswortels-syndroom nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
3331415012 Ackerman syndrome has characteristics of pyramidal molar roots and taurodontism associated with variable anomalies. It has been described in two generations of one family. Both parents and their six siblings had pyramidal, taurodont or fused molar roots. Some of the patients also had hypotrichosis, an abnormal upper lip, thickened and wide philtrum, and/or juvenile glaucoma. Other features included entropion of the eyelid, syndactyly and clinodactyly of the fifth fingers. 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 gebrekkige ontwikkeling (afwijkende morfologie) 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 gebrekkige ontwikkeling (afwijkende morfologie) false Inferred relationship Some 5
Ackerman syndrome (disorder) Associated morphology congenitale dysplasie (afwijkende morfologie) 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 congenitale dysplasie (afwijkende morfologie) 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

This concept is not in any reference sets

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