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733621007: 46,XX disorder of sex development with skeletal anomalies syndrome (disorder)

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
3472763017 46,XX disorder of sex development with skeletal anomalies syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3472764011 46,XX disorder of sex development with skeletal anomalies syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3472765012 Female pseudohermaphroditism with skeletal anomalies syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5403831018 A rare disorder of sex development characterized by primary amenorrhea and ambiguous external genitalia (enlarged clitoris with marked fusion of the labioscrotal folds) in association with skeletal anomalies (such as hypoplasia of the mandibular condyles and the maxilla, and ulnar dislocation of the radial heads), in the presence of a 46,XX karyotype and regular ovaries, fallopian tubes, and uterus. There have been no further descriptions in the literature since 1972. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403832013 A rare disorder of sex development characterised by primary amenorrhoea and ambiguous external genitalia (enlarged clitoris with marked fusion of the labioscrotal folds) in association with skeletal anomalies (such as hypoplasia of the mandibular condyles and the maxilla, and ulnar dislocation of the radial heads), in the presence of a 46,XX karyotype and regular ovaries, fallopian tubes, and uterus. There have been no further descriptions in the literature since 1972. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3472763017 46,XX disorder of sex development with skeletal anomalies syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3472764011 46,XX disorder of sex development with skeletal anomalies syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3472765012 Female pseudohermaphroditism with skeletal anomalies syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3472766013 Syndrome that is characterized by primary amenorrhea, ambiguous external genitalia and bone abnormalities for example hypoplasia of the mandibular condyles, hypoplasia of the maxilla, ulnar dislocation of the radial heads. It has been described in two sisters born to consanguineous parents. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3472767016 Syndrome that is characterised by primary amenorrhoea, ambiguous external genitalia and bone abnormalities for example hypoplasia of the mandibular condyles, hypoplasia of the maxilla, ulnar dislocation of the radial heads. It has been described in two sisters born to consanguineous parents. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403831018 A rare disorder of sex development characterized by primary amenorrhea and ambiguous external genitalia (enlarged clitoris with marked fusion of the labioscrotal folds) in association with skeletal anomalies (such as hypoplasia of the mandibular condyles and the maxilla, and ulnar dislocation of the radial heads), in the presence of a 46,XX karyotype and regular ovaries, fallopian tubes, and uterus. There have been no further descriptions in the literature since 1972. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403832013 A rare disorder of sex development characterised by primary amenorrhoea and ambiguous external genitalia (enlarged clitoris with marked fusion of the labioscrotal folds) in association with skeletal anomalies (such as hypoplasia of the mandibular condyles and the maxilla, and ulnar dislocation of the radial heads), in the presence of a 46,XX karyotype and regular ovaries, fallopian tubes, and uterus. There have been no further descriptions in the literature since 1972. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3413721001000113 Störung der Geschlechtsentwicklung 46,XX - Skelettanomalien de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
888551000172116 syndrome d'anomalie du développement sexuel 46,XX-anomalies squelettiques fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
888551000172116 syndrome d'anomalie du développement sexuel 46,XX-anomalies squelettiques fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3413721001000113 Störung der Geschlechtsentwicklung 46,XX - Skelettanomalien de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
46,XX disorder of sex development with skeletal anomalies syndrome Is a Congenital anomaly of skeletal bone true Inferred relationship Existential restriction modifier (core metadata concept)
46,XX disorder of sex development with skeletal anomalies syndrome Is a Ambiguous genitalia true Inferred relationship Existential restriction modifier (core metadata concept)
46,XX disorder of sex development with skeletal anomalies syndrome Is a Pseudohermaphroditism (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
46,XX disorder of sex development with skeletal anomalies syndrome Is a Multiple system malformation syndrome true Inferred relationship Existential restriction modifier (core metadata concept)
46,XX disorder of sex development with skeletal anomalies syndrome Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
46,XX disorder of sex development with skeletal anomalies syndrome Is a Connective tissue hereditary disorder false Inferred relationship Existential restriction modifier (core metadata concept)
46,XX disorder of sex development with skeletal anomalies syndrome Is a Hereditary disorder of musculoskeletal system true Inferred relationship Existential restriction modifier (core metadata concept)
46,XX disorder of sex development with skeletal anomalies syndrome Is a Reproductive system hereditary disorder (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
46,XX disorder of sex development with skeletal anomalies syndrome Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 2
46,XX disorder of sex development with skeletal anomalies syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
46,XX disorder of sex development with skeletal anomalies syndrome Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 3
46,XX disorder of sex development with skeletal anomalies syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 3
46,XX disorder of sex development with skeletal anomalies syndrome Finding site Bone structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
46,XX disorder of sex development with skeletal anomalies syndrome Finding site External genitalia structure false Inferred relationship Existential restriction modifier (core metadata concept) 3
46,XX disorder of sex development with skeletal anomalies syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
46,XX disorder of sex development with skeletal anomalies syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
46,XX disorder of sex development with skeletal anomalies syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
46,XX disorder of sex development with skeletal anomalies syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
46,XX disorder of sex development with skeletal anomalies syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
46,XX disorder of sex development with skeletal anomalies syndrome Finding site External genitalia structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
46,XX disorder of sex development with skeletal anomalies syndrome Is a 46,XX disorder of sex development true Inferred relationship Existential restriction modifier (core metadata concept)
46,XX disorder of sex development with skeletal anomalies syndrome Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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