721072003: Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder)

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

\Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Disorder of pituitary gland\Hypopituitarism\Anterior pituitary hormone deficiency (disorder)\Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder)
\Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Disorder of pituitary gland\Congenital anomaly of pituitary gland\Congenital malformation of anterior pituitary\Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder)
\Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Disorder of pituitary gland\Disorder of anterior pituitary\Anterior pituitary hormone deficiency (disorder)\Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder)
\Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Disorder of pituitary gland\Disorder of anterior pituitary\Congenital malformation of anterior pituitary\Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder)
\Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital hypoplasia of cerebrum\Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder)
\Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Congenital hypoplasia of cerebrum\Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder)
\Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Congenital anomaly of pituitary gland\Congenital malformation of anterior pituitary\Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder)
\Head finding (finding)\Skull finding\Disorder of skull (disorder)\Congenital anomaly of skull\Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of skull (disorder)\Congenital anomaly of skull\Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder)
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder)
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital hypoplasia of cerebrum\Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder)
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Congenital hypoplasia of cerebrum\Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder)
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Congenital anomaly of pituitary gland\Congenital malformation of anterior pituitary\Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Disorder of pituitary gland\Hypopituitarism\Anterior pituitary hormone deficiency (disorder)\Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Disorder of pituitary gland\Congenital anomaly of pituitary gland\Congenital malformation of anterior pituitary\Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Disorder of pituitary gland\Disorder of anterior pituitary\Anterior pituitary hormone deficiency (disorder)\Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Disorder of pituitary gland\Disorder of anterior pituitary\Congenital malformation of anterior pituitary\Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital hypoplasia of cerebrum\Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Congenital hypoplasia of cerebrum\Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Congenital anomaly of pituitary gland\Congenital malformation of anterior pituitary\Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder)

\Body measurement finding\Height / growth finding\General finding of height\Disorder of stature\Short stature disorder\Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder)

\Finding of general physiological development\Disorder of stature\Short stature disorder\Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder)

\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Disorder of pituitary gland\Hypopituitarism\Anterior pituitary hormone deficiency (disorder)\Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder)
\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Disorder of pituitary gland\Congenital anomaly of pituitary gland\Congenital malformation of anterior pituitary\Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder)
\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Disorder of pituitary gland\Disorder of anterior pituitary\Anterior pituitary hormone deficiency (disorder)\Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder)
\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Disorder of pituitary gland\Disorder of anterior pituitary\Congenital malformation of anterior pituitary\Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder)
\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital hypoplasia of cerebrum\Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder)
\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Congenital hypoplasia of cerebrum\Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder)
\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Congenital anomaly of pituitary gland\Congenital malformation of anterior pituitary\Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder)
\Central nervous system finding\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital hypoplasia of cerebrum\Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder)
\Central nervous system finding\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Congenital hypoplasia of cerebrum\Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder)
\Central nervous system finding\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Congenital anomaly of pituitary gland\Congenital malformation of anterior pituitary\Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder)
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Disorder of pituitary gland\Hypopituitarism\Anterior pituitary hormone deficiency (disorder)\Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder)
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Disorder of pituitary gland\Congenital anomaly of pituitary gland\Congenital malformation of anterior pituitary\Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder)
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Disorder of pituitary gland\Disorder of anterior pituitary\Anterior pituitary hormone deficiency (disorder)\Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder)
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Disorder of pituitary gland\Disorder of anterior pituitary\Congenital malformation of anterior pituitary\Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder)
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital hypoplasia of cerebrum\Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder)
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Congenital hypoplasia of cerebrum\Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder)
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Congenital anomaly of pituitary gland\Congenital malformation of anterior pituitary\Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder)

\Musculoskeletal finding\Bone finding\Skull finding\Disorder of skull (disorder)\Congenital anomaly of skull\Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder)
\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder)
\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of skull (disorder)\Congenital anomaly of skull\Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of skull (disorder)\Congenital anomaly of skull\Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital hypoplasia of cerebrum\Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Congenital hypoplasia of cerebrum\Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Congenital anomaly of pituitary gland\Congenital malformation of anterior pituitary\Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital hypoplasia of cerebrum\Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Congenital hypoplasia of cerebrum\Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Congenital anomaly of pituitary gland\Congenital malformation of anterior pituitary\Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of endocrine gland\Congenital anomaly of pituitary gland\Congenital malformation of anterior pituitary\Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder)
\Disease\Disorder of body system\Disorder of endocrine system\Disorder of pituitary gland\Hypopituitarism\Anterior pituitary hormone deficiency (disorder)\Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder)
\Disease\Disorder of body system\Disorder of endocrine system\Disorder of pituitary gland\Congenital anomaly of pituitary gland\Congenital malformation of anterior pituitary\Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder)
\Disease\Disorder of body system\Disorder of endocrine system\Disorder of pituitary gland\Disorder of anterior pituitary\Anterior pituitary hormone deficiency (disorder)\Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder)
\Disease\Disorder of body system\Disorder of endocrine system\Disorder of pituitary gland\Disorder of anterior pituitary\Congenital malformation of anterior pituitary\Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder)
\Disease\Disorder of body system\Disorder of endocrine system\Hereditary disorder of endocrine system (disorder)\Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder)
\Disease\Disorder of body system\Disorder of endocrine system\Congenital anomaly of endocrine gland\Congenital anomaly of pituitary gland\Congenital malformation of anterior pituitary\Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital hypoplasia of cerebrum\Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Congenital hypoplasia of cerebrum\Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Congenital anomaly of pituitary gland\Congenital malformation of anterior pituitary\Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital hypoplasia of cerebrum\Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Congenital hypoplasia of cerebrum\Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Congenital anomaly of pituitary gland\Congenital malformation of anterior pituitary\Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Disorder of pituitary gland\Hypopituitarism\Anterior pituitary hormone deficiency (disorder)\Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Disorder of pituitary gland\Congenital anomaly of pituitary gland\Congenital malformation of anterior pituitary\Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Disorder of pituitary gland\Disorder of anterior pituitary\Anterior pituitary hormone deficiency (disorder)\Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Disorder of pituitary gland\Disorder of anterior pituitary\Congenital malformation of anterior pituitary\Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital hypoplasia of cerebrum\Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Congenital hypoplasia of cerebrum\Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Congenital anomaly of pituitary gland\Congenital malformation of anterior pituitary\Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of skull (disorder)\Congenital anomaly of skull\Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder)
\Disease\Disorder of head (disorder)\Disorder of skull (disorder)\Congenital anomaly of skull\Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder)
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder)
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital hypoplasia of cerebrum\Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder)
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Congenital hypoplasia of cerebrum\Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder)
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Congenital anomaly of pituitary gland\Congenital malformation of anterior pituitary\Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder)
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Disorder of pituitary gland\Hypopituitarism\Anterior pituitary hormone deficiency (disorder)\Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder)
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Disorder of pituitary gland\Congenital anomaly of pituitary gland\Congenital malformation of anterior pituitary\Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder)
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Disorder of pituitary gland\Disorder of anterior pituitary\Anterior pituitary hormone deficiency (disorder)\Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder)
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Disorder of pituitary gland\Disorder of anterior pituitary\Congenital malformation of anterior pituitary\Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder)
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital hypoplasia of cerebrum\Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder)
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Congenital hypoplasia of cerebrum\Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder)
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Congenital anomaly of pituitary gland\Congenital malformation of anterior pituitary\Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder)
\Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital hypoplasia of cerebrum\Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Congenital hypoplasia of cerebrum\Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Congenital anomaly of pituitary gland\Congenital malformation of anterior pituitary\Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital hypoplasia of cerebrum\Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Congenital hypoplasia of cerebrum\Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Congenital anomaly of pituitary gland\Congenital malformation of anterior pituitary\Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of endocrine gland\Congenital anomaly of pituitary gland\Congenital malformation of anterior pituitary\Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder)
\Disease\Developmental disorder\Disorder of stature\Short stature disorder\Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3323360013 Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3323361012 Short stature, pituitary and cerebellar defect and small sella turcica syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

5402575019 Short stature-pituitary and cerebellar defects-small sella turcica syndrome is characterized by short stature, anterior pituitary hormone deficiency, small sella turcica, and a hypoplastic anterior hypophysis associated with pointed cerebellar tonsils. It has been described in three generations of a large French kindred. Ectopia of the posterior hypophysis was observed in some patients. The syndrome is transmitted as a dominantly inherited trait and is caused by a germline mutation within the LIM-homeobox transcription factor LHX4 gene (1q25). en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5402576018 Short stature-pituitary and cerebellar defects-small sella turcica syndrome is characterised by short stature, anterior pituitary hormone deficiency, small sella turcica, and a hypoplastic anterior hypophysis associated with pointed cerebellar tonsils. It has been described in three generations of a large French kindred. Ectopia of the posterior hypophysis was observed in some patients. The syndrome is transmitted as a dominantly inherited trait and is caused by a germline mutation within the LIM-homeobox transcription factor LHX4 gene (1q25). 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
Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder)	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder)	Is a	Congenital anomaly of skull	true	Inferred relationship	Some
Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder)	Is a	Congenital hypoplasia of part of brain	false	Inferred relationship	Some
Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder)	Is a	Short stature disorder	true	Inferred relationship	Some
Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder)	Is a	Congenital malformation of anterior pituitary	true	Inferred relationship	Some
Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder)	Is a	Connective tissue hereditary disorder (disorder)	false	Inferred relationship	Some
Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder)	Is a	Hereditary disorder of endocrine system (disorder)	true	Inferred relationship	Some
Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder)	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder)	Is a	Hereditary disorder of nervous system	true	Inferred relationship	Some
Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder)	Is a	Anterior pituitary hormone deficiency (disorder)	true	Inferred relationship	Some
Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder)	Associated morphology	Congenital hypoplasia	false	Inferred relationship	Some	2
Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder)	Finding site	Adenohypophysis structure	true	Inferred relationship	Some	2
Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder)	Associated morphology	Congenital smallness	false	Inferred relationship	Some	3
Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	3
Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder)	Finding site	Entire pituitary fossa	false	Inferred relationship	Some	3
Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder)	Is a	Congenital hypoplasia of cerebrum	true	Inferred relationship	Some
Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder)	Finding site	Entire pituitary fossa	false	Inferred relationship	Some	1
Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder)	Associated morphology	Congenital smallness	false	Inferred relationship	Some	1
Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder)	Associated morphology	Hypoplasia	true	Inferred relationship	Some	2
Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder)	Interprets	Height / growth measure	true	Inferred relationship	Some	3
Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder)	Is a	Hypoplasia of hypothalamus	false	Inferred relationship	Some
Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder)	Associated morphology	Abnormal smallness (morphologic abnormality)	true	Inferred relationship	Some	1
Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder)	Finding site	Entire sella turcica (body structure)	false	Inferred relationship	Some	1
Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder)	Finding site	Entire sella turcica (body structure)	true	Inferred relationship	Some	1

Inbound Relationships

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Characteristic

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Reference Sets

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

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Id	Description	Lang	Type	Status	Case?	Module
3323360013	Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3323361012	Short stature, pituitary and cerebellar defect and small sella turcica syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5402575019	Short stature-pituitary and cerebellar defects-small sella turcica syndrome is characterized by short stature, anterior pituitary hormone deficiency, small sella turcica, and a hypoplastic anterior hypophysis associated with pointed cerebellar tonsils. It has been described in three generations of a large French kindred. Ectopia of the posterior hypophysis was observed in some patients. The syndrome is transmitted as a dominantly inherited trait and is caused by a germline mutation within the LIM-homeobox transcription factor LHX4 gene (1q25).	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402576018	Short stature-pituitary and cerebellar defects-small sella turcica syndrome is characterised by short stature, anterior pituitary hormone deficiency, small sella turcica, and a hypoplastic anterior hypophysis associated with pointed cerebellar tonsils. It has been described in three generations of a large French kindred. Ectopia of the posterior hypophysis was observed in some patients. The syndrome is transmitted as a dominantly inherited trait and is caused by a germline mutation within the LIM-homeobox transcription factor LHX4 gene (1q25).	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core