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721087008: Deafness and intellectual disability Martin Probst type syndrome (disorder)

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

Descriptions:

Id Description Lang Type Status Case? Module
3323439015 Deafness and intellectual disability Martin Probst type syndrome (disorder) en Fully specified name Active Initial character case insensitive SNOMED CT core
3323440018 Deafness and intellectual disability Martin Probst type syndrome en Synonym Active Initial character case insensitive SNOMED CT core
3323441019 Martin Probst syndrome en Synonym Active Case sensitive SNOMED CT core
3323442014 X-linked deafness and intellectual disability syndrome en Synonym Active Case sensitive SNOMED CT core
3323443016 This syndrome has characteristics of severe bilateral deafness, intellectual deficit, umbilical hernia and abnormal dermatoglyphics. It has been described in three males from three generations of one family. Mild facial dysmorphism (telangiectasias, hypertelorism, dental anomalies and a wide nasal root) was also present. Short stature, pancytopenia, microcephaly and renal and genitourinary anomalies were present in some of the patients. The mode of transmission is X-linked recessive and the causative gene is q1-21 region of the X chromosome. en Definition Active Case sensitive SNOMED CT core

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Deafness and intellectual disability Martin Probst type syndrome Pathological process Pathological developmental process true Inferred relationship Some 1
Deafness and intellectual disability Martin Probst type syndrome Occurrence Congenital true Inferred relationship Some 1
Deafness and intellectual disability Martin Probst type syndrome Finding site Face structure true Inferred relationship Some 1
Deafness and intellectual disability Martin Probst type syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Some 1
Deafness and intellectual disability Martin Probst type syndrome Finding site Structure of auditory system true Inferred relationship Some 2
Deafness and intellectual disability Martin Probst type syndrome Is a Developmental hereditary disorder true Inferred relationship Some
Deafness and intellectual disability Martin Probst type syndrome Is a X-linked recessive hereditary disease true Inferred relationship Some
Deafness and intellectual disability Martin Probst type syndrome Is a Congenital sensorineural hearing loss true Inferred relationship Some
Deafness and intellectual disability Martin Probst type syndrome Has interpretation Impaired true Inferred relationship Some 3
Deafness and intellectual disability Martin Probst type syndrome Occurrence Congenital true Inferred relationship Some 2
Deafness and intellectual disability Martin Probst type syndrome Is a X-linked sensorineural hearing loss true Inferred relationship Some
Deafness and intellectual disability Martin Probst type syndrome Interprets Intellectual ability true Inferred relationship Some 4
Deafness and intellectual disability Martin Probst type syndrome Has interpretation Impaired true Inferred relationship Some 4
Deafness and intellectual disability Martin Probst type syndrome Interprets Adaptation behaviour true Inferred relationship Some 5
Deafness and intellectual disability Martin Probst type syndrome Has interpretation Impaired true Inferred relationship Some 5
Deafness and intellectual disability Martin Probst type syndrome Is a Multiple malformation syndrome with facial defects as major feature true Inferred relationship Some
Deafness and intellectual disability Martin Probst type syndrome Is a Intellectual disability false Inferred relationship Some
Deafness and intellectual disability Martin Probst type syndrome Is a Bilateral hearing loss true Inferred relationship Some
Deafness and intellectual disability Martin Probst type syndrome Is a Congenital hearing disorder false Inferred relationship Some
Deafness and intellectual disability Martin Probst type syndrome Is a X-linked hereditary disease false Inferred relationship Some
Deafness and intellectual disability Martin Probst type syndrome Is a Hearing loss associated with syndrome true Inferred relationship Some
Deafness and intellectual disability Martin Probst type syndrome Is a Auditory system hereditary disorder false Inferred relationship Some
Deafness and intellectual disability Martin Probst type syndrome Finding site Ear structure false Inferred relationship Some 2
Deafness and intellectual disability Martin Probst type syndrome Interprets Hearing true Inferred relationship Some 3
Deafness and intellectual disability Martin Probst type syndrome Interprets Functional observable false Inferred relationship Some
Deafness and intellectual disability Martin Probst type syndrome Associated morphology Developmental abnormality false Inferred relationship Some 4
Deafness and intellectual disability Martin Probst type syndrome Occurrence Congenital false Inferred relationship Some 4
Deafness and intellectual disability Martin Probst type syndrome Finding site Face structure false Inferred relationship Some 4
Deafness and intellectual disability Martin Probst type syndrome Is a Intellectual disability true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Queensland allied health clinical finding reference set

Queensland allied health indicator for intervention reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Description inactivation indicator reference set

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