724280001: Hypospadias, hypertelorism, coloboma, deafness syndrome (disorder)

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

Descriptions:

Id Description Lang Type Status Case? Module

3498183010 Hypospadias, hypertelorism, coloboma, deafness syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3498184016 Hypospadias, hypertelorism, coloboma, deafness syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3499908012 A very rare syndrome consisting of short stature, facial dysmorphism, hypospadias and mixed hearing loss. It has been reported in two brothers. Dysmorphic features include hypertelorism, upper lid coloboma, midface hypoplasia, saddle nose deformity with a midline nasal cleft, thick philtrum and everted lower lip. The two brothers had developmental delay. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3498183010 Hypospadias, hypertelorism, coloboma, deafness syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3498184016 Hypospadias, hypertelorism, coloboma, deafness syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3499908012 A very rare syndrome consisting of short stature, facial dysmorphism, hypospadias and mixed hearing loss. It has been reported in two brothers. Dysmorphic features include hypertelorism, upper lid coloboma, midface hypoplasia, saddle nose deformity with a midline nasal cleft, thick philtrum and everted lower lip. The two brothers had developmental delay. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Hypospadias, hypertelorism, coloboma, deafness syndrome	Is a	Hypertelorism	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Hypospadias, hypertelorism, coloboma, deafness syndrome	Is a	Multiple malformation syndrome with facial defects as major feature	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Hypospadias, hypertelorism, coloboma, deafness syndrome	Is a	Mixed conductive AND sensorineural hearing loss	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Hypospadias, hypertelorism, coloboma, deafness syndrome	Is a	Autosomal recessive hereditary disorder	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Hypospadias, hypertelorism, coloboma, deafness syndrome	Is a	Coloboma of eyelid (disorder)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Hypospadias, hypertelorism, coloboma, deafness syndrome	Is a	Congenital hearing disorder	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Hypospadias, hypertelorism, coloboma, deafness syndrome	Is a	Hearing loss associated with syndrome	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Hypospadias, hypertelorism, coloboma, deafness syndrome	Is a	Short stature disorder (disorder)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Hypospadias, hypertelorism, coloboma, deafness syndrome	Is a	Auditory system hereditary disorder	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Hypospadias, hypertelorism, coloboma, deafness syndrome	Is a	Connective tissue hereditary disorder	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Hypospadias, hypertelorism, coloboma, deafness syndrome	Is a	Hereditary disorder of musculoskeletal system	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Hypospadias, hypertelorism, coloboma, deafness syndrome	Is a	Hereditary disorder of the urinary system	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Hypospadias, hypertelorism, coloboma, deafness syndrome	Is a	Hereditary disorder of the visual system (disorder)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Hypospadias, hypertelorism, coloboma, deafness syndrome	Is a	Hypospadias (disorder)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Hypospadias, hypertelorism, coloboma, deafness syndrome	Finding site	Ear structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Hypospadias, hypertelorism, coloboma, deafness syndrome	Interprets	Hearing	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Hypospadias, hypertelorism, coloboma, deafness syndrome	Interprets	entité observable fonctionnelle	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Hypospadias, hypertelorism, coloboma, deafness syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)	6
Hypospadias, hypertelorism, coloboma, deafness syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)	7
Hypospadias, hypertelorism, coloboma, deafness syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)	8
Hypospadias, hypertelorism, coloboma, deafness syndrome	Finding site	Upper eyelid structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	8
Hypospadias, hypertelorism, coloboma, deafness syndrome	Associated morphology	Congenital malposition	false	Inferred relationship	Existential restriction modifier (core metadata concept)	6
Hypospadias, hypertelorism, coloboma, deafness syndrome	Finding site	Structure of urethral meatus	false	Inferred relationship	Existential restriction modifier (core metadata concept)	6
Hypospadias, hypertelorism, coloboma, deafness syndrome	Associated morphology	anomalie du développement	false	Inferred relationship	Existential restriction modifier (core metadata concept)	7
Hypospadias, hypertelorism, coloboma, deafness syndrome	Finding site	Sphenoid bone structure (body structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	7
Hypospadias, hypertelorism, coloboma, deafness syndrome	Associated morphology	Developmental failure of fusion (morphologic abnormality)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	8
Hypospadias, hypertelorism, coloboma, deafness syndrome	Is a	Lesion of upper eyelid	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Hypospadias, hypertelorism, coloboma, deafness syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Hypospadias, hypertelorism, coloboma, deafness syndrome	Pathological process (attribute)	Pathological developmental process (qualifier value)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Hypospadias, hypertelorism, coloboma, deafness syndrome	Pathological process (attribute)	Pathological developmental process (qualifier value)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Hypospadias, hypertelorism, coloboma, deafness syndrome	Is a	Coloboma of superior eyelid is a rare developmental defect during embryogenesis characterised by a typically unilateral, partial or full-thickness, variably sized defect of the superior eyelid, ranging from a small notch to complete absence of the entire lid, which is commonly triangular in shape (with base at eyelid margin) and located on the medial third of the lid. It can occur isolated, associated with other anomalies (e.g. ocular/orbital and facial), or as part of a syndrome.	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Hypospadias, hypertelorism, coloboma, deafness syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Hypospadias, hypertelorism, coloboma, deafness syndrome	Pathological process (attribute)	Pathological developmental process (qualifier value)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Hypospadias, hypertelorism, coloboma, deafness syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Hypospadias, hypertelorism, coloboma, deafness syndrome	Associated morphology	Morphologically abnormal structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Hypospadias, hypertelorism, coloboma, deafness syndrome	Finding site	Sphenoid bone structure (body structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Hypospadias, hypertelorism, coloboma, deafness syndrome	Finding site	Structure of urethral meatus	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Hypospadias, hypertelorism, coloboma, deafness syndrome	Associated morphology	Congenital malposition	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Hypospadias, hypertelorism, coloboma, deafness syndrome	Associated morphology	Developmental failure of fusion (morphologic abnormality)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Hypospadias, hypertelorism, coloboma, deafness syndrome	Finding site	Upper eyelid structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Concept inactivation indicator attribute value reference set (foundation metadata concept)

REPLACED BY association reference set (foundation metadata concept)

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3498183010	Hypospadias, hypertelorism, coloboma, deafness syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3498184016	Hypospadias, hypertelorism, coloboma, deafness syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3499908012	A very rare syndrome consisting of short stature, facial dysmorphism, hypospadias and mixed hearing loss. It has been reported in two brothers. Dysmorphic features include hypertelorism, upper lid coloboma, midface hypoplasia, saddle nose deformity with a midline nasal cleft, thick philtrum and everted lower lip. The two brothers had developmental delay.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3498183010	Hypospadias, hypertelorism, coloboma, deafness syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3498184016	Hypospadias, hypertelorism, coloboma, deafness syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3499908012	A very rare syndrome consisting of short stature, facial dysmorphism, hypospadias and mixed hearing loss. It has been reported in two brothers. Dysmorphic features include hypertelorism, upper lid coloboma, midface hypoplasia, saddle nose deformity with a midline nasal cleft, thick philtrum and everted lower lip. The two brothers had developmental delay.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core