702362004: syndroom van karakteristieke craniofaciale kenmerken, doofheid en afwijkingen van hand (aandoening)

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

\Head finding (finding)\Finding of head region\Finding of face\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Craniofacial deafness hand syndrome (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Craniofacial deafness hand syndrome (disorder)
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Craniofacial deafness hand syndrome (disorder)

\Finding of limb structure\Disorder of limb (disorder)\Disorder of upper limb (disorder)\Disorder of hand (disorder)\Congenital anomaly of hand (disorder)\Craniofacial deafness hand syndrome (disorder)
\Finding of limb structure\Disorder of limb (disorder)\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Craniofacial deafness hand syndrome (disorder)
\Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Craniofacial deafness hand syndrome (disorder)
\Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Craniofacial deafness hand syndrome (disorder)
\Finding of limb structure\Finding of upper limb\Disorder of upper limb (disorder)\Disorder of hand (disorder)\Congenital anomaly of hand (disorder)\Craniofacial deafness hand syndrome (disorder)
\Finding of limb structure\Finding of upper limb\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Craniofacial deafness hand syndrome (disorder)
\Finding of limb structure\Finding of upper limb\Finding of hand region\Disorder of hand (disorder)\Congenital anomaly of hand (disorder)\Craniofacial deafness hand syndrome (disorder)

\Ear and auditory finding (finding)\Disorder of auditory system\Auditory system hereditary disorder\Craniofacial deafness hand syndrome (disorder)
\Ear and auditory finding (finding)\Disorder of auditory system\Hearing disorder\Congenital hearing disorder\Congenital hearing loss (disorder)\Congenital sensorineural hearing loss (disorder)\Craniofacial deafness hand syndrome (disorder)
\Ear and auditory finding (finding)\Disorder of auditory system\Hearing disorder\Hearing loss\Congenital hearing loss (disorder)\Congenital sensorineural hearing loss (disorder)\Craniofacial deafness hand syndrome (disorder)
\Ear and auditory finding (finding)\Disorder of auditory system\Hearing disorder\Hearing loss\Sensorineural hearing loss\Congenital sensorineural hearing loss (disorder)\Craniofacial deafness hand syndrome (disorder)
\Ear and auditory finding (finding)\Hearing finding (finding)\Hearing disorder\Congenital hearing disorder\Congenital hearing loss (disorder)\Congenital sensorineural hearing loss (disorder)\Craniofacial deafness hand syndrome (disorder)
\Ear and auditory finding (finding)\Hearing finding (finding)\Hearing disorder\Hearing loss\Congenital hearing loss (disorder)\Congenital sensorineural hearing loss (disorder)\Craniofacial deafness hand syndrome (disorder)
\Ear and auditory finding (finding)\Hearing finding (finding)\Hearing disorder\Hearing loss\Sensorineural hearing loss\Congenital sensorineural hearing loss (disorder)\Craniofacial deafness hand syndrome (disorder)

\Functional finding\Finding of sensory function\Hearing finding (finding)\Hearing disorder\...

\Congenital hearing disorder\Congenital hearing loss (disorder)\Congenital sensorineural hearing loss (disorder)\Craniofacial deafness hand syndrome (disorder)

\Hearing loss\Congenital hearing loss (disorder)\Congenital sensorineural hearing loss (disorder)\Craniofacial deafness hand syndrome (disorder)
\Hearing loss\Sensorineural hearing loss\Congenital sensorineural hearing loss (disorder)\Craniofacial deafness hand syndrome (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Auditory system hereditary disorder\Craniofacial deafness hand syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Craniofacial deafness hand syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Craniofacial deafness hand syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Craniofacial deafness hand syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Craniofacial deafness hand syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Craniofacial deafness hand syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Craniofacial deafness hand syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Craniofacial deafness hand syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital hearing disorder\Congenital hearing loss (disorder)\Congenital sensorineural hearing loss (disorder)\Craniofacial deafness hand syndrome (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Auditory system hereditary disorder\Craniofacial deafness hand syndrome (disorder)
\Disease\Disorder of body system\Disorder of auditory system\Auditory system hereditary disorder\Craniofacial deafness hand syndrome (disorder)
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Congenital hearing disorder\Congenital hearing loss (disorder)\Congenital sensorineural hearing loss (disorder)\Craniofacial deafness hand syndrome (disorder)
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Congenital hearing loss (disorder)\Congenital sensorineural hearing loss (disorder)\Craniofacial deafness hand syndrome (disorder)
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Sensorineural hearing loss\Congenital sensorineural hearing loss (disorder)\Craniofacial deafness hand syndrome (disorder)
\Disease\Disorder of limb (disorder)\Disorder of upper limb (disorder)\Disorder of hand (disorder)\Congenital anomaly of hand (disorder)\Craniofacial deafness hand syndrome (disorder)
\Disease\Disorder of limb (disorder)\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Craniofacial deafness hand syndrome (disorder)
\Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Craniofacial deafness hand syndrome (disorder)
\Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Craniofacial deafness hand syndrome (disorder)
\Disease\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Craniofacial deafness hand syndrome (disorder)
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Craniofacial deafness hand syndrome (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\Craniofacial deafness hand syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Craniofacial deafness hand syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Craniofacial deafness hand syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Craniofacial deafness hand syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Craniofacial deafness hand syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Craniofacial deafness hand syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2014. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Craniofacial deafness hand syndrome (disorder)	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Craniofacial deafness hand syndrome (disorder)	Is a	multisysteemaandoening	false	Inferred relationship	Some
Craniofacial deafness hand syndrome (disorder)	Is a	Multiple malformation syndrome with facial-limb defects as major feature	true	Inferred relationship	Some
Craniofacial deafness hand syndrome (disorder)	Is a	Congenital anomaly of hand (disorder)	true	Inferred relationship	Some
Craniofacial deafness hand syndrome (disorder)	Is a	Congenital sensorineural hearing loss (disorder)	true	Inferred relationship	Some
Craniofacial deafness hand syndrome (disorder)	Is a	Auditory system hereditary disorder	true	Inferred relationship	Some
Craniofacial deafness hand syndrome (disorder)	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	1
Craniofacial deafness hand syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Craniofacial deafness hand syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Craniofacial deafness hand syndrome (disorder)	Finding site	Hand structure	true	Inferred relationship	Some	1
Craniofacial deafness hand syndrome (disorder)	Finding site	Face structure	true	Inferred relationship	Some	2
Craniofacial deafness hand syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Craniofacial deafness hand syndrome (disorder)	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	2
Craniofacial deafness hand syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
Craniofacial deafness hand syndrome (disorder)	Finding site	Structure of auditory system (body structure)	true	Inferred relationship	Some	3
Craniofacial deafness hand syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	3
Craniofacial deafness hand syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	3
Craniofacial deafness hand syndrome (disorder)	Interprets	Hearing	true	Inferred relationship	Some	4
Craniofacial deafness hand syndrome (disorder)	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
2995560012	Craniofacial deafness hand syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2995823017	Craniofacial deafness hand syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3881249013	Sommer Young Wee Frye syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
6356691000146113	Sommer-Young-Wee-Frye-syndroom	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6356701000146113	syndroom van Sommer-Young-Wee-Frye	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6356711000146110	CDHS	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6587861000146114	syndroom van karakteristieke craniofaciale kenmerken, doofheid en afwijkingen van hand	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6587871000146115	syndroom van karakteristieke craniofaciale kenmerken, doofheid en afwijkingen van hand (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)