732953008: Ectodermal dysplasia and sensorineural deafness syndrome (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Ectodermal dysplasia and sensorineural deafness syndrome

\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Ectodermal dysplasia and sensorineural deafness syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Ectodermal dysplasia and sensorineural deafness syndrome

\Ear and auditory finding (finding)\Disorder of auditory system\Auditory system hereditary disorder\Ectodermal dysplasia and sensorineural deafness syndrome
\Ear and auditory finding (finding)\Disorder of auditory system\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Ectodermal dysplasia and sensorineural deafness syndrome
\Ear and auditory finding (finding)\Disorder of auditory system\Hearing disorder\Hearing loss\Sensorineural hearing loss\Ectodermal dysplasia and sensorineural deafness syndrome
\Ear and auditory finding (finding)\Hearing finding (finding)\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Ectodermal dysplasia and sensorineural deafness syndrome
\Ear and auditory finding (finding)\Hearing finding (finding)\Hearing disorder\Hearing loss\Sensorineural hearing loss\Ectodermal dysplasia and sensorineural deafness syndrome

\Functional finding\Hearing finding (finding)\Hearing disorder\Hearing loss\...

\Hearing loss associated with syndrome\Ectodermal dysplasia and sensorineural deafness syndrome

\Sensorineural hearing loss\Ectodermal dysplasia and sensorineural deafness syndrome

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Ectodermal dysplasia and sensorineural deafness syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Ectodermal dysplasia and sensorineural deafness syndrome
\Integumentary system finding\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Ectodermal dysplasia and sensorineural deafness syndrome
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Ectodermal dysplasia and sensorineural deafness syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Ectodermal dysplasia and sensorineural deafness syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Auditory system hereditary disorder\Ectodermal dysplasia and sensorineural deafness syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Ectodermal dysplasia and sensorineural deafness syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Ectodermal dysplasia and sensorineural deafness syndrome
\Disease\Disorder of embryonic structure (disorder)\Congenital ectodermal defect\Ectodermal dysplasia\Ectodermal dysplasia and sensorineural deafness syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Ectodermal dysplasia and sensorineural deafness syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Auditory system hereditary disorder\Ectodermal dysplasia and sensorineural deafness syndrome
\Disease\Disorder of body system\Disorder of auditory system\Auditory system hereditary disorder\Ectodermal dysplasia and sensorineural deafness syndrome
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Ectodermal dysplasia and sensorineural deafness syndrome
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Sensorineural hearing loss\Ectodermal dysplasia and sensorineural deafness syndrome
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Ectodermal dysplasia and sensorineural deafness syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Ectodermal dysplasia and sensorineural deafness syndrome
\Disease\Disorder of body system\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Ectodermal dysplasia and sensorineural deafness syndrome
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital ectodermal defect\Ectodermal dysplasia\Ectodermal dysplasia and sensorineural deafness syndrome
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Ectodermal dysplasia and sensorineural deafness syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Ectodermal dysplasia and sensorineural deafness syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Ectodermal dysplasia and sensorineural deafness syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital ectodermal defect\Ectodermal dysplasia\Ectodermal dysplasia and sensorineural deafness syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Ectodermal dysplasia and sensorineural deafness syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3498432015 Ectodermal dysplasia and sensorineural deafness syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3498433013 Ectodermal dysplasia and sensorineural deafness syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3499921017 Syndrome with characteristics of hidrotic ectodermal dysplasia, sensorineural hearing loss and contracture of the fifth fingers. It has been described in brother and sister born to consanguineous parents. The girl also presented with thoracic scoliosis. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3956111000052110 syndrom med ektodermal dysplasi och sensorineural dövhet sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Ectodermal dysplasia and sensorineural deafness syndrome	Is a	Ectodermal dysplasia	true	Inferred relationship	Some
Ectodermal dysplasia and sensorineural deafness syndrome	Is a	Sensorineural hearing loss	true	Inferred relationship	Some
Ectodermal dysplasia and sensorineural deafness syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Ectodermal dysplasia and sensorineural deafness syndrome	Is a	Congenital hearing disorder	false	Inferred relationship	Some
Ectodermal dysplasia and sensorineural deafness syndrome	Is a	Hearing loss associated with syndrome	true	Inferred relationship	Some
Ectodermal dysplasia and sensorineural deafness syndrome	Is a	Auditory system hereditary disorder	true	Inferred relationship	Some
Ectodermal dysplasia and sensorineural deafness syndrome	Is a	Hereditary disorder of the integument	true	Inferred relationship	Some
Ectodermal dysplasia and sensorineural deafness syndrome	Finding site	Ear structure	false	Inferred relationship	Some	3
Ectodermal dysplasia and sensorineural deafness syndrome	Interprets	Hearing	true	Inferred relationship	Some	4
Ectodermal dysplasia and sensorineural deafness syndrome	Interprets	observabel som rör funktion	false	Inferred relationship	Some
Ectodermal dysplasia and sensorineural deafness syndrome	Associated morphology	utvecklingsabnormitet	false	Inferred relationship	Some	5
Ectodermal dysplasia and sensorineural deafness syndrome	Occurrence	Congenital	false	Inferred relationship	Some	5
Ectodermal dysplasia and sensorineural deafness syndrome	Finding site	Skin structure	false	Inferred relationship	Some	5
Ectodermal dysplasia and sensorineural deafness syndrome	Associated morphology	kongenital dysplasi	false	Inferred relationship	Some	6
Ectodermal dysplasia and sensorineural deafness syndrome	Occurrence	Congenital	false	Inferred relationship	Some	6
Ectodermal dysplasia and sensorineural deafness syndrome	Finding site	Ectoderm structure	false	Inferred relationship	Some	6
Ectodermal dysplasia and sensorineural deafness syndrome	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	2
Ectodermal dysplasia and sensorineural deafness syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Ectodermal dysplasia and sensorineural deafness syndrome	Associated morphology	kongenital dysplasi	false	Inferred relationship	Some	1
Ectodermal dysplasia and sensorineural deafness syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Ectodermal dysplasia and sensorineural deafness syndrome	Finding site	Skin structure	true	Inferred relationship	Some	2
Ectodermal dysplasia and sensorineural deafness syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Ectodermal dysplasia and sensorineural deafness syndrome	Finding site	Ectoderm structure	true	Inferred relationship	Some	1
Ectodermal dysplasia and sensorineural deafness syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Ectodermal dysplasia and sensorineural deafness syndrome	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Ectodermal dysplasia and sensorineural deafness syndrome	Finding site	Structure of auditory system (body structure)	true	Inferred relationship	Some	3
Ectodermal dysplasia and sensorineural deafness syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
3498432015	Ectodermal dysplasia and sensorineural deafness syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3498433013	Ectodermal dysplasia and sensorineural deafness syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3499921017	Syndrome with characteristics of hidrotic ectodermal dysplasia, sensorineural hearing loss and contracture of the fifth fingers. It has been described in brother and sister born to consanguineous parents. The girl also presented with thoracic scoliosis.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3956111000052110	syndrom med ektodermal dysplasi och sensorineural dövhet	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)