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

SNOMED CT Concept\Clinical finding\...

\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of pelvic region of trunk\Ambiguous genitalia\46,XX disorder of sex development with skeletal anomalies syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\46,XX disorder of sex development\46,XX disorder of sex development with skeletal anomalies syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\Pseudohermaphroditism\46,XX disorder of sex development with skeletal anomalies syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\Ambiguous genitalia\46,XX disorder of sex development with skeletal anomalies syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of reproductive system\Reproductive system hereditary disorder\46,XX disorder of sex development with skeletal anomalies syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of reproductive system\Congenital malformation of genital organs\46,XX disorder of sex development\46,XX disorder of sex development with skeletal anomalies syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of reproductive system\Congenital malformation of genital organs\Pseudohermaphroditism\46,XX disorder of sex development with skeletal anomalies syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of reproductive system\Congenital malformation of genital organs\Ambiguous genitalia\46,XX disorder of sex development with skeletal anomalies syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Genitourinary congenital anomalies\Congenital malformation of genital organs\46,XX disorder of sex development\46,XX disorder of sex development with skeletal anomalies syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Genitourinary congenital anomalies\Congenital malformation of genital organs\Pseudohermaphroditism\46,XX disorder of sex development with skeletal anomalies syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Genitourinary congenital anomalies\Congenital malformation of genital organs\Ambiguous genitalia\46,XX disorder of sex development with skeletal anomalies syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of pelvic region of trunk\Disorder of pelvic region of trunk\Ambiguous genitalia\46,XX disorder of sex development with skeletal anomalies syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Genital finding\Congenital malformation of genital organs\46,XX disorder of sex development\46,XX disorder of sex development with skeletal anomalies syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Genital finding\Congenital malformation of genital organs\Pseudohermaphroditism\46,XX disorder of sex development with skeletal anomalies syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Genital finding\Congenital malformation of genital organs\Ambiguous genitalia\46,XX disorder of sex development with skeletal anomalies syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Disorder of the genitourinary system\Disorder of reproductive system\Reproductive system hereditary disorder\46,XX disorder of sex development with skeletal anomalies syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Disorder of the genitourinary system\Disorder of reproductive system\Congenital malformation of genital organs\46,XX disorder of sex development\46,XX disorder of sex development with skeletal anomalies syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Disorder of the genitourinary system\Disorder of reproductive system\Congenital malformation of genital organs\Pseudohermaphroditism\46,XX disorder of sex development with skeletal anomalies syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Disorder of the genitourinary system\Disorder of reproductive system\Congenital malformation of genital organs\Ambiguous genitalia\46,XX disorder of sex development with skeletal anomalies syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Disorder of the genitourinary system\Genitourinary congenital anomalies\Congenital malformation of genital organs\46,XX disorder of sex development\46,XX disorder of sex development with skeletal anomalies syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Disorder of the genitourinary system\Genitourinary congenital anomalies\Congenital malformation of genital organs\Pseudohermaphroditism\46,XX disorder of sex development with skeletal anomalies syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Disorder of the genitourinary system\Genitourinary congenital anomalies\Congenital malformation of genital organs\Ambiguous genitalia\46,XX disorder of sex development with skeletal anomalies syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of pelvic region of trunk\Ambiguous genitalia\46,XX disorder of sex development with skeletal anomalies syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\46,XX disorder of sex development\46,XX disorder of sex development with skeletal anomalies syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\Pseudohermaphroditism\46,XX disorder of sex development with skeletal anomalies syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\Ambiguous genitalia\46,XX disorder of sex development with skeletal anomalies syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of reproductive system\Reproductive system hereditary disorder\46,XX disorder of sex development with skeletal anomalies syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of reproductive system\Congenital malformation of genital organs\46,XX disorder of sex development\46,XX disorder of sex development with skeletal anomalies syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of reproductive system\Congenital malformation of genital organs\Pseudohermaphroditism\46,XX disorder of sex development with skeletal anomalies syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of reproductive system\Congenital malformation of genital organs\Ambiguous genitalia\46,XX disorder of sex development with skeletal anomalies syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Genitourinary congenital anomalies\Congenital malformation of genital organs\46,XX disorder of sex development\46,XX disorder of sex development with skeletal anomalies syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Genitourinary congenital anomalies\Congenital malformation of genital organs\Pseudohermaphroditism\46,XX disorder of sex development with skeletal anomalies syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Genitourinary congenital anomalies\Congenital malformation of genital organs\Ambiguous genitalia\46,XX disorder of sex development with skeletal anomalies syndrome
\Finding of trunk structure\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\46,XX disorder of sex development\46,XX disorder of sex development with skeletal anomalies syndrome
\Finding of trunk structure\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\Pseudohermaphroditism\46,XX disorder of sex development with skeletal anomalies syndrome
\Finding of trunk structure\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\Ambiguous genitalia\46,XX disorder of sex development with skeletal anomalies syndrome

\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\46,XX disorder of sex development with skeletal anomalies syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\46,XX disorder of sex development with skeletal anomalies syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\46,XX disorder of sex development with skeletal anomalies syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\46,XX disorder of sex development with skeletal anomalies syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Reproductive system hereditary disorder\46,XX disorder of sex development with skeletal anomalies syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\46,XX disorder of sex development with skeletal anomalies syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\46,XX disorder of sex development with skeletal anomalies syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\46,XX disorder of sex development with skeletal anomalies syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Reproductive system hereditary disorder\46,XX disorder of sex development with skeletal anomalies syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\46,XX disorder of sex development with skeletal anomalies syndrome
\Disease\Disorder of body system\Disorder of the genitourinary system\Disorder of reproductive system\Reproductive system hereditary disorder\46,XX disorder of sex development with skeletal anomalies syndrome
\Disease\Disorder of body system\Disorder of the genitourinary system\Disorder of reproductive system\Congenital malformation of genital organs\46,XX disorder of sex development\46,XX disorder of sex development with skeletal anomalies syndrome
\Disease\Disorder of body system\Disorder of the genitourinary system\Disorder of reproductive system\Congenital malformation of genital organs\Pseudohermaphroditism\46,XX disorder of sex development with skeletal anomalies syndrome
\Disease\Disorder of body system\Disorder of the genitourinary system\Disorder of reproductive system\Congenital malformation of genital organs\Ambiguous genitalia\46,XX disorder of sex development with skeletal anomalies syndrome
\Disease\Disorder of body system\Disorder of the genitourinary system\Genitourinary congenital anomalies\Congenital malformation of genital organs\46,XX disorder of sex development\46,XX disorder of sex development with skeletal anomalies syndrome
\Disease\Disorder of body system\Disorder of the genitourinary system\Genitourinary congenital anomalies\Congenital malformation of genital organs\Pseudohermaphroditism\46,XX disorder of sex development with skeletal anomalies syndrome
\Disease\Disorder of body system\Disorder of the genitourinary system\Genitourinary congenital anomalies\Congenital malformation of genital organs\Ambiguous genitalia\46,XX disorder of sex development with skeletal anomalies syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\46,XX disorder of sex development with skeletal anomalies syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\46,XX disorder of sex development with skeletal anomalies syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\46,XX disorder of sex development with skeletal anomalies syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of pelvic region of trunk\Ambiguous genitalia\46,XX disorder of sex development with skeletal anomalies syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\46,XX disorder of sex development\46,XX disorder of sex development with skeletal anomalies syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\Pseudohermaphroditism\46,XX disorder of sex development with skeletal anomalies syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\Ambiguous genitalia\46,XX disorder of sex development with skeletal anomalies syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of reproductive system\Reproductive system hereditary disorder\46,XX disorder of sex development with skeletal anomalies syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of reproductive system\Congenital malformation of genital organs\46,XX disorder of sex development\46,XX disorder of sex development with skeletal anomalies syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of reproductive system\Congenital malformation of genital organs\Pseudohermaphroditism\46,XX disorder of sex development with skeletal anomalies syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of reproductive system\Congenital malformation of genital organs\Ambiguous genitalia\46,XX disorder of sex development with skeletal anomalies syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Genitourinary congenital anomalies\Congenital malformation of genital organs\46,XX disorder of sex development\46,XX disorder of sex development with skeletal anomalies syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Genitourinary congenital anomalies\Congenital malformation of genital organs\Pseudohermaphroditism\46,XX disorder of sex development with skeletal anomalies syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Genitourinary congenital anomalies\Congenital malformation of genital organs\Ambiguous genitalia\46,XX disorder of sex development with skeletal anomalies syndrome
\Disease\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\46,XX disorder of sex development\46,XX disorder of sex development with skeletal anomalies syndrome
\Disease\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\Pseudohermaphroditism\46,XX disorder of sex development with skeletal anomalies syndrome
\Disease\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\Ambiguous genitalia\46,XX disorder of sex development with skeletal anomalies syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\46,XX disorder of sex development with skeletal anomalies syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\46,XX disorder of sex development\46,XX disorder of sex development with skeletal anomalies syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\Pseudohermaphroditism\46,XX disorder of sex development with skeletal anomalies syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\Ambiguous genitalia\46,XX disorder of sex development with skeletal anomalies syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\46,XX disorder of sex development\46,XX disorder of sex development with skeletal anomalies syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\Pseudohermaphroditism\46,XX disorder of sex development with skeletal anomalies syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\Ambiguous genitalia\46,XX disorder of sex development with skeletal anomalies syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\46,XX disorder of sex development with skeletal anomalies syndrome
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\46,XX disorder of sex development with skeletal anomalies syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\46,XX disorder of sex development with skeletal anomalies syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\46,XX disorder of sex development with skeletal anomalies syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\46,XX disorder of sex development\46,XX disorder of sex development with skeletal anomalies syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\Pseudohermaphroditism\46,XX disorder of sex development with skeletal anomalies syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\Ambiguous genitalia\46,XX disorder of sex development with skeletal anomalies syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\46,XX disorder of sex development\46,XX disorder of sex development with skeletal anomalies syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\Pseudohermaphroditism\46,XX disorder of sex development with skeletal anomalies syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\Ambiguous genitalia\46,XX disorder of sex development with skeletal anomalies syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\46,XX disorder of sex development with skeletal anomalies syndrome

Status: current, Primitive. 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 Initial character case insensitive SNOMED CT core

3472764011 46,XX disorder of sex development with skeletal anomalies syndrome en Synonym Active Initial character case insensitive SNOMED CT core

3472765012 Female pseudohermaphroditism with skeletal anomalies syndrome en Synonym Active Case insensitive 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 Case sensitive 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 Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
46,XX disorder of sex development with skeletal anomalies syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	2
46,XX disorder of sex development with skeletal anomalies syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
46,XX disorder of sex development with skeletal anomalies syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
46,XX disorder of sex development with skeletal anomalies syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	1
46,XX disorder of sex development with skeletal anomalies syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
46,XX disorder of sex development with skeletal anomalies syndrome	Finding site	External genitalia structure	true	Inferred relationship	Some	1
46,XX disorder of sex development with skeletal anomalies syndrome	Is a	46,XX disorder of sex development	true	Inferred relationship	Some
46,XX disorder of sex development with skeletal anomalies syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
46,XX disorder of sex development with skeletal anomalies syndrome	Is a	Congenital anomaly of skeletal bone	true	Inferred relationship	Some
46,XX disorder of sex development with skeletal anomalies syndrome	Is a	Ambiguous genitalia	true	Inferred relationship	Some
46,XX disorder of sex development with skeletal anomalies syndrome	Is a	Pseudohermaphroditism	true	Inferred relationship	Some
46,XX disorder of sex development with skeletal anomalies syndrome	Is a	Multiple system malformation syndrome	true	Inferred relationship	Some
46,XX disorder of sex development with skeletal anomalies syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
46,XX disorder of sex development with skeletal anomalies syndrome	Is a	Inherited disorder of connective tissue	false	Inferred relationship	Some
46,XX disorder of sex development with skeletal anomalies syndrome	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
46,XX disorder of sex development with skeletal anomalies syndrome	Is a	Reproductive system hereditary disorder	true	Inferred relationship	Some
46,XX disorder of sex development with skeletal anomalies syndrome	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	2
46,XX disorder of sex development with skeletal anomalies syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
46,XX disorder of sex development with skeletal anomalies syndrome	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	3
46,XX disorder of sex development with skeletal anomalies syndrome	Occurrence	Congenital	false	Inferred relationship	Some	3
46,XX disorder of sex development with skeletal anomalies syndrome	Finding site	Bone structure	true	Inferred relationship	Some	2
46,XX disorder of sex development with skeletal anomalies syndrome	Finding site	External genitalia structure	false	Inferred relationship	Some	3

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3472763017	46,XX disorder of sex development with skeletal anomalies syndrome (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
3472764011	46,XX disorder of sex development with skeletal anomalies syndrome	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3472765012	Female pseudohermaphroditism with skeletal anomalies syndrome	en	Synonym	Active	Case insensitive	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	Case sensitive	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	Case sensitive	SNOMED CT core