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773750003: syndroom van plat aangezicht, microstomie en ooranomalie (aandoening)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3726270013 Simosa Penchaszadeh Bustos syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3726271012 Blepharophimosis, telecanthus, microstomia syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3726272017 Flat face, microstomia, ear anomaly syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3726273010 Flat face, microstomia, ear anomaly syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3726274016 Simosa craniofacial syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
6594191000146118 craniofaciaal syndroom van Simosa nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6723871000146119 syndroom van plat gelaat, microstomie en ooranomalie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6723881000146117 syndroom van blefarofimose, telecanthus en microstomie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6841191000146112 syndroom van Simosa-Penchaszadeh-Bustos nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
12486691000146110 syndroom van plat aangezicht, microstomie en ooranomalie (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
12660001000146111 syndroom van plat aangezicht, microstomie en ooranomalie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
3726276019 A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of dysmorphic facial features including high forehead, elongated and flattened midface, arched and sparse eyebrows, short palpebral fissures, telecanthus, long nose with hypoplastic nostrils, long philtrum, high and narrow palate and microstomia with downturned corners. Ears are characteristically malformed, large, low-set and posteriorly rotated and nasal speech is associated. 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
Flat face, microstomia, ear anomaly syndrome (disorder) Is a Autosomal dominant hereditary disorder true Inferred relationship Some
Flat face, microstomia, ear anomaly syndrome (disorder) Associated morphology congenitale kleinheid false Inferred relationship Some 3
Flat face, microstomia, ear anomaly syndrome (disorder) Is a Digestive system hereditary disorder (disorder) true Inferred relationship Some
Flat face, microstomia, ear anomaly syndrome (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 2
Flat face, microstomia, ear anomaly syndrome (disorder) Finding site Face structure true Inferred relationship Some 1
Flat face, microstomia, ear anomaly syndrome (disorder) Is a Multiple malformation syndrome with facial defects as major feature true Inferred relationship Some
Flat face, microstomia, ear anomaly syndrome (disorder) Occurrence Congenital true Inferred relationship Some 2
Flat face, microstomia, ear anomaly syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Flat face, microstomia, ear anomaly syndrome (disorder) Is a Microstomia true Inferred relationship Some
Flat face, microstomia, ear anomaly syndrome (disorder) Occurrence Congenital true Inferred relationship Some 3
Flat face, microstomia, ear anomaly syndrome (disorder) Finding site Mouth region structure true Inferred relationship Some 3
Flat face, microstomia, ear anomaly syndrome (disorder) Occurrence Congenital true Inferred relationship Some 1
Flat face, microstomia, ear anomaly syndrome (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 1
Flat face, microstomia, ear anomaly syndrome (disorder) Is a Congenital malformation of ear true Inferred relationship Some
Flat face, microstomia, ear anomaly syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Flat face, microstomia, ear anomaly syndrome (disorder) Is a Auditory system hereditary disorder true Inferred relationship Some
Flat face, microstomia, ear anomaly syndrome (disorder) Finding site Ear structure true Inferred relationship Some 2
Flat face, microstomia, ear anomaly syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Flat face, microstomia, ear anomaly syndrome (disorder) Is a Developmental hereditary disorder true Inferred relationship Some
Flat face, microstomia, ear anomaly syndrome (disorder) Associated morphology Abnormal smallness (morphologic abnormality) true Inferred relationship Some 3

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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