723453002: Pterygia, heart anomaly, autosomal recessive inheritance, vertebral defect, ear anomaly, radial defect syndrome (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Finding of limb structure (finding)\Disorder of limb\Congenital anomaly of limb\A rare multiple congenital anomalies syndrome characterized by the association of limb pterygia, heart anomalies, autosomal recessive inheritance, vertebral defects, ear anomalies and radial defects.
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\A rare multiple congenital anomalies syndrome characterized by the association of limb pterygia, heart anomalies, autosomal recessive inheritance, vertebral defects, ear anomalies and radial defects.
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\A rare multiple congenital anomalies syndrome characterized by the association of limb pterygia, heart anomalies, autosomal recessive inheritance, vertebral defects, ear anomalies and radial defects.
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\A rare multiple congenital anomalies syndrome characterized by the association of limb pterygia, heart anomalies, autosomal recessive inheritance, vertebral defects, ear anomalies and radial defects.
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of limb\A rare multiple congenital anomalies syndrome characterized by the association of limb pterygia, heart anomalies, autosomal recessive inheritance, vertebral defects, ear anomalies and radial defects.
• \Disease\Disorder of limb\Congenital anomaly of limb\A rare multiple congenital anomalies syndrome characterized by the association of limb pterygia, heart anomalies, autosomal recessive inheritance, vertebral defects, ear anomalies and radial defects.
• \Disease\Developmental disorder (disorder)\Developmental hereditary disorder\A rare multiple congenital anomalies syndrome characterized by the association of limb pterygia, heart anomalies, autosomal recessive inheritance, vertebral defects, ear anomalies and radial defects.
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\A rare multiple congenital anomalies syndrome characterized by the association of limb pterygia, heart anomalies, autosomal recessive inheritance, vertebral defects, ear anomalies and radial defects.
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of limb\A rare multiple congenital anomalies syndrome characterized by the association of limb pterygia, heart anomalies, autosomal recessive inheritance, vertebral defects, ear anomalies and radial defects.

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
3424682016	Pterygia, heart anomaly, autosomal recessive inheritance, vertebral defect, ear anomaly, radial defect syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3424683014	Pterygia, heart anomaly, autosomal recessive inheritance, vertebral defect, ear anomaly, radial defect syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3424684015	PHAVER syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3424685019	PHAVER (pterygia, heart anomaly, autosomal recessive inheritance, vertebral defect, ear anomaly, radial defect) syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3424686018	Powell Chandra Saal syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5403075015	A rare multiple congenital anomalies syndrome characterized by the association of limb pterygia, heart anomalies, autosomal recessive inheritance, vertebral defects, ear anomalies and radial defects.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5403076019	A rare multiple congenital anomalies syndrome characterised by the association of limb pterygia, heart anomalies, autosomal recessive inheritance, vertebral defects, ear anomalies and radial defects.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3424682016	Pterygia, heart anomaly, autosomal recessive inheritance, vertebral defect, ear anomaly, radial defect syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3424683014	Pterygia, heart anomaly, autosomal recessive inheritance, vertebral defect, ear anomaly, radial defect syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3424684015	PHAVER syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3424685019	PHAVER (pterygia, heart anomaly, autosomal recessive inheritance, vertebral defect, ear anomaly, radial defect) syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3424686018	Powell Chandra Saal syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3424687010	A very rare syndrome with the association of limb pterygia, heart anomalies, autosomal recessive inheritance, vertebral defects, ear anomalies and radial defects. It has been described in two siblings. One of the siblings also had a myelomeningocele. The reported cases suggest the condition is hereditary with probable autosomal recessive inheritance.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5403075015	A rare multiple congenital anomalies syndrome characterized by the association of limb pterygia, heart anomalies, autosomal recessive inheritance, vertebral defects, ear anomalies and radial defects.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5403076019	A rare multiple congenital anomalies syndrome characterised by the association of limb pterygia, heart anomalies, autosomal recessive inheritance, vertebral defects, ear anomalies and radial defects.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3450471001000115	PHAVER-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3450471001000115	PHAVER-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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